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Entry version 172 (10 Apr 2019)
Sequence version 2 (06 Dec 2005)
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Protein

Lipopolysaccharide-induced tumor necrosis factor-alpha factor

Gene

LITAF

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in endosomal protein trafficking and in targeting proteins for lysosomal degradation (PubMed:23166352). Plays a role in targeting endocytosed EGFR and ERGG3 for lysosomal degradation, and thereby helps downregulate downstream signaling cascades (PubMed:23166352). Helps recruit the ESCRT complex components TSG101, HGS and STAM to cytoplasmic membranes (PubMed:23166352). Probably plays a role in regulating protein degradation via its interaction with NEDD4 (PubMed:15776429). May also contribute to the regulation of gene expression in the nucleus (PubMed:10200294, PubMed:15793005). Binds DNA (in vitro) and may play a synergistic role with STAT6 in the nucleus in regulating the expression of various cytokines (PubMed:15793005). May regulate the expression of numerous cytokines, such as TNF, CCL2, CCL5, CXCL1, IL1A and IL10 (PubMed:10200294, PubMed:15793005).1 Publication1 Publication2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi96Zinc2 Publications1
Metal bindingi99Zinc1 Publication1
Metal bindingi148Zinc2 Publications1
Metal bindingi151Zinc1 Publication1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q99732

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Lipopolysaccharide-induced tumor necrosis factor-alpha factor1 Publication
Short name:
LPS-induced TNF-alpha factor1 Publication
Alternative name(s):
Small integral membrane protein of lysosome/late endosome1 Publication
p53-induced gene 7 protein1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LITAF
Synonyms:PIG72 Publications, SIMPLE1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000189067.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16841 LITAF

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603795 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99732

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Endosome, Golgi apparatus, Lysosome, Membrane, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Charcot-Marie-Tooth disease 1C (CMT1C)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
See also OMIM:601098
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02401549T → M in CMT1C. 1 PublicationCorresponds to variant dbSNP:rs141862602EnsemblClinVar.1
Natural variantiVAR_024017112G → S in CMT1C; does not abolish interaction with NEDD4 and TSG101. 5 PublicationsCorresponds to variant dbSNP:rs104894519EnsemblClinVar.1
Natural variantiVAR_024018115T → N in CMT1C; does not abolish interaction with NEDD4 and TSG101. 2 PublicationsCorresponds to variant dbSNP:rs104894520EnsemblClinVar.1
Natural variantiVAR_024019116W → G in CMT1C; decreases protein stability and association with early endosome membranes; impaired function in targeting endocytosed proteins for lysosomal degradation; does not abolish interaction with NEDD4 and TSG101. 4 PublicationsCorresponds to variant dbSNP:rs104894521EnsemblClinVar.1
Natural variantiVAR_024020122L → V in CMT1C. 1 PublicationCorresponds to variant dbSNP:rs104894522EnsemblClinVar.1
Defects in LITAF may be involved in extramammary Paget disease (EMPD) carcinogenesis. EMPD is a cancerous disease representing about 8% of all malignant skin cancers; it usually appears in the anogenital area and can be fatal by metastasizing to internal organs when left untreated for a long time. The clinical features are usually those of eczematous eruptions with weeping and crust formation.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi17 – 20PSAP → ASAA: Impaired function in targeting endocytosed proteins for lysosomal degradation. 1 Publication4
Mutagenesisi17 – 19PSA → AGG: Abolishes interaction with TSG101. 1 Publication3
Mutagenesisi23Y → A: Abolishes interaction with NEDD4. 1 Publication1
Mutagenesisi23Y → A: Abolishes interaction with WWOX. Abolishes interaction with NEDD4. Abolishes interaction with NEDD4 and impairs location at endosomes; when associated with A-61. 2 Publications1
Mutagenesisi61Y → A: No effect on interaction with WWOX. No effect on interaction with NEDD4. Abolishes interaction with NEDD4 and impairs location at endosomes; when associated with A-23. 2 Publications1
Mutagenesisi96C → A: Abolishes association with cytoplasmic vesicle membranes. 1 Publication1
Mutagenesisi135P → T: Decreases protein stability and association with early endosome membranes. Impaired function in targeting endocytosed proteins for lysosomal degradation. 2 Publications1
Mutagenesisi144V → M: No effect on location at endosomes, but impairs protein stability. 1 Publication1
Mutagenesisi148C → A: Abolishes association with cytoplasmic vesicle membranes. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
9516

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
LITAF

MalaCards human disease database

More...
MalaCardsi
LITAF
MIMi601098 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000189067

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
101083 Charcot-Marie-Tooth disease type 1C

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134879224

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
LITAF

Domain mapping of disease mutations (DMDM)

More...
DMDMi
83304387

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000844401 – 161Lipopolysaccharide-induced tumor necrosis factor-alpha factorAdd BLAST161

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated on tyrosine residues in response to EGF.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q99732

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q99732

PeptideAtlas

More...
PeptideAtlasi
Q99732

PRoteomics IDEntifications database

More...
PRIDEi
Q99732

ProteomicsDB human proteome resource

More...
ProteomicsDBi
78448
78449 [Q99732-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q99732

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q99732

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q99732

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously and abundantly expressed. Expressed predominantly in the placenta, peripheral blood leukocytes, lymph nodes and spleen.2 Publications

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by bacterial lipopolysaccharide (LPS) (at protein level) (PubMed:15793005). By bacterial lipopolysaccharide (LPS) and by p53/TP53 (PubMed:9305847, PubMed:10200294). In monocytes by the Bacillus Calmette-Guerin (BCG) (PubMed:11274176).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000189067 Expressed in 237 organ(s), highest expression level in epithelium of bronchus

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q99732 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q99732 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA006960

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer (PubMed:27927196). Interacts with NEDD4 (PubMed:16118794, PubMed:27927196). Interacts (via PSAP motif) with TSG101, a component of the ESCRT-I complex (endosomal sorting complex required for transport I) (PubMed:16118794). Interacts with WWOX (PubMed:15064722). Interacts with STAM, a component of the ESCRT-0 complex; the interaction is direct (PubMed:23166352). Identified in a complex with STAM and HGS; within this complex, interacts directly with STAM, but not with HGS (PubMed:23166352). Interacts with STAT6 (PubMed:15793005).1 Publication4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
114893, 42 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q99732

Protein interaction database and analysis system

More...
IntActi
Q99732, 38 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000459533

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q99732

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q99732

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini76 – 160LITAFPROSITE-ProRule annotationAdd BLAST85

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni111 – 134Membrane-binding amphipathic helix1 PublicationAdd BLAST24

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi17 – 20PSAP motif; important for interaction with TSG1012 Publications4
Motifi20 – 23PPxY motif3 Publications4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PPxY motif mediates interaction with WWOX and NEDD4.2 Publications
The LITAF domain is stabilized by a bound zinc ion (PubMed:27927196, PubMed:27582497). The LITAF domain contains an amphiphatic helix that mediates interaction with lipid membranes (PubMed:23166352, PubMed:27927196, PubMed:27582497). It interacts specifically with phosphatidylethanolamine lipid headgroups, but not with phosphoglycerol, phosphocholine, phosphoserine or inositolhexakisphosphate (PubMed:27927196).3 Publications

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the CDIP1/LITAF family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IVVU Eukaryota
ENOG41122PJ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155366

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000039585

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG006272

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99732

KEGG Orthology (KO)

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KOi
K19363

Identification of Orthologs from Complete Genome Data

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OMAi
TMAINSH

Database of Orthologous Groups

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OrthoDBi
1564782at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q99732

TreeFam database of animal gene trees

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TreeFami
TF313294

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR006629 LITAF
IPR037519 LITAF_fam

The PANTHER Classification System

More...
PANTHERi
PTHR23292 PTHR23292, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10601 zf-LITAF-like, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00714 LITAF, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51837 LITAF, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99732-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSVPGPYQAA TGPSSAPSAP PSYEETVAVN SYYPTPPAPM PGPTTGLVTG
60 70 80 90 100
PDGKGMNPPS YYTQPAPIPN NNPITVQTVY VQHPITFLDR PIQMCCPSCN
110 120 130 140 150
KMIVSQLSYN AGALTWLSCG SLCLLGCIAG CCFIPFCVDA LQDVDHYCPN
160
CRALLGTYKR L
Length:161
Mass (Da):17,107
Last modified:December 6, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i08D15BF1FDCA16F0
GO
Isoform 2 (identifier: Q99732-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-161: CIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKRL → VHSGLLLHPL...TPEIAAWSRA

Note: May be due to a frameshift that creates an unconventional splicing site. Data inferred from this isoform must be interpreted with caution.
Show »
Length:228
Mass (Da):23,903
Checksum:i2672B55AD96FC4B5
GO
Isoform 3 (identifier: Q99732-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     127-161: CIAGCCFIPFCVDALQDVDHYCPNCRALLGTYKRL → QECSGTIVALRSFDLLGSCNPPSSAS

Note: No experimental confirmation available.
Show »
Length:152
Mass (Da):15,824
Checksum:iE2270BD322D63344
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L1I9I3L1I9_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
137Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1P1I3L1P1_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
136Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L329I3L329_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
126Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L3U8I3L3U8_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1H3I3L1H3_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2T6I3L2T6_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
105Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2E2I3L2E2_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
75Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L409I3L409_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
81Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L2T1I3L2T1_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
88Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1R0I3L1R0_HUMAN
Lipopolysaccharide-induced tumor ne...
LITAF
39Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02401423Y → H in one EMPD primary tumor; somatic mutation. 1 Publication1
Natural variantiVAR_02401549T → M in CMT1C. 1 PublicationCorresponds to variant dbSNP:rs141862602EnsemblClinVar.1
Natural variantiVAR_02401692I → V2 PublicationsCorresponds to variant dbSNP:rs4280262EnsemblClinVar.1
Natural variantiVAR_024017112G → S in CMT1C; does not abolish interaction with NEDD4 and TSG101. 5 PublicationsCorresponds to variant dbSNP:rs104894519EnsemblClinVar.1
Natural variantiVAR_024018115T → N in CMT1C; does not abolish interaction with NEDD4 and TSG101. 2 PublicationsCorresponds to variant dbSNP:rs104894520EnsemblClinVar.1
Natural variantiVAR_024019116W → G in CMT1C; decreases protein stability and association with early endosome membranes; impaired function in targeting endocytosed proteins for lysosomal degradation; does not abolish interaction with NEDD4 and TSG101. 4 PublicationsCorresponds to variant dbSNP:rs104894521EnsemblClinVar.1
Natural variantiVAR_024020122L → V in CMT1C. 1 PublicationCorresponds to variant dbSNP:rs104894522EnsemblClinVar.1
Isoform 2 (identifier: Q99732-2)
Natural varianti174A → S Found as a somatic mutation in a EMPD primary tumor. 1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_016461127 – 161CIAGC…TYKRL → VHSGLLLHPLLRGCPAGRGP LLSQLQSSPGHLQAFVGLSQ TWREPGAAGSPFHLSSSFTP GGGSALVVSPLQGAHLHVFF WGEYVAKLTNLQTPEIAAWS RA in isoform 2. 2 PublicationsAdd BLAST35
Alternative sequenceiVSP_045701127 – 161CIAGC…TYKRL → QECSGTIVALRSFDLLGSCN PPSSAS in isoform 3. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF010312 mRNA Translation: AAC39530.1
U77396 mRNA Translation: AAB36550.1
AB034747 mRNA Translation: BAB32547.1
AK095955 mRNA No translation available.
BX537543 mRNA Translation: CAD97778.1
AC007616 Genomic DNA No translation available.
AC099489 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85150.1
CH471112 Genomic DNA Translation: EAW85151.1
CH471112 Genomic DNA Translation: EAW85152.1
CH471112 Genomic DNA Translation: EAW85153.1
BC000053 mRNA Translation: AAH00053.1
BC008309 mRNA Translation: AAH08309.1
BC016491 mRNA Translation: AAH16491.1
BC039840 mRNA Translation: AAH39840.1
BC046154 mRNA Translation: AAH46154.1
BC096063 mRNA Translation: AAH96063.1
BC096065 mRNA Translation: AAH96065.1
BC096066 mRNA Translation: AAH96066.1
BC101401 mRNA Translation: AAI01402.1
BC101402 mRNA Translation: AAI01403.1
BC101969 mRNA Translation: AAI01970.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32386.1 [Q99732-1]
CCDS45411.1 [Q99732-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001129944.1, NM_001136472.1 [Q99732-1]
NP_001129945.1, NM_001136473.1 [Q99732-3]
NP_004853.2, NM_004862.3 [Q99732-1]
XP_006721045.1, XM_006720982.2 [Q99732-1]
XP_006721046.1, XM_006720983.3 [Q99732-1]
XP_006721047.1, XM_006720984.3 [Q99732-1]
XP_006721048.1, XM_006720985.3 [Q99732-1]
XP_016879385.1, XM_017023896.1 [Q99732-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.459940

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000339430; ENSP00000340118; ENSG00000189067 [Q99732-1]
ENST00000381810; ENSP00000371231; ENSG00000189067 [Q99732-2]
ENST00000413364; ENSP00000397958; ENSG00000189067 [Q99732-3]
ENST00000570904; ENSP00000459138; ENSG00000189067 [Q99732-1]
ENST00000571688; ENSP00000459533; ENSG00000189067 [Q99732-1]
ENST00000574763; ENSP00000461813; ENSG00000189067 [Q99732-1]
ENST00000576036; ENSP00000461667; ENSG00000189067 [Q99732-1]
ENST00000620789; ENSP00000481589; ENSG00000189067 [Q99732-3]
ENST00000622633; ENSP00000483114; ENSG00000189067 [Q99732-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9516

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9516

UCSC genome browser

More...
UCSCi
uc002daz.4 human [Q99732-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Inherited peripheral neuropathies mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF010312 mRNA Translation: AAC39530.1
U77396 mRNA Translation: AAB36550.1
AB034747 mRNA Translation: BAB32547.1
AK095955 mRNA No translation available.
BX537543 mRNA Translation: CAD97778.1
AC007616 Genomic DNA No translation available.
AC099489 Genomic DNA No translation available.
CH471112 Genomic DNA Translation: EAW85150.1
CH471112 Genomic DNA Translation: EAW85151.1
CH471112 Genomic DNA Translation: EAW85152.1
CH471112 Genomic DNA Translation: EAW85153.1
BC000053 mRNA Translation: AAH00053.1
BC008309 mRNA Translation: AAH08309.1
BC016491 mRNA Translation: AAH16491.1
BC039840 mRNA Translation: AAH39840.1
BC046154 mRNA Translation: AAH46154.1
BC096063 mRNA Translation: AAH96063.1
BC096065 mRNA Translation: AAH96065.1
BC096066 mRNA Translation: AAH96066.1
BC101401 mRNA Translation: AAI01402.1
BC101402 mRNA Translation: AAI01403.1
BC101969 mRNA Translation: AAI01970.1
CCDSiCCDS32386.1 [Q99732-1]
CCDS45411.1 [Q99732-3]
RefSeqiNP_001129944.1, NM_001136472.1 [Q99732-1]
NP_001129945.1, NM_001136473.1 [Q99732-3]
NP_004853.2, NM_004862.3 [Q99732-1]
XP_006721045.1, XM_006720982.2 [Q99732-1]
XP_006721046.1, XM_006720983.3 [Q99732-1]
XP_006721047.1, XM_006720984.3 [Q99732-1]
XP_006721048.1, XM_006720985.3 [Q99732-1]
XP_016879385.1, XM_017023896.1 [Q99732-1]
UniGeneiHs.459940

3D structure databases

ProteinModelPortaliQ99732
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114893, 42 interactors
CORUMiQ99732
IntActiQ99732, 38 interactors
STRINGi9606.ENSP00000459533

Chemistry databases

BindingDBiQ99732

PTM databases

iPTMnetiQ99732
PhosphoSitePlusiQ99732
SwissPalmiQ99732

Polymorphism and mutation databases

BioMutaiLITAF
DMDMi83304387

Proteomic databases

jPOSTiQ99732
PaxDbiQ99732
PeptideAtlasiQ99732
PRIDEiQ99732
ProteomicsDBi78448
78449 [Q99732-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
9516
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000339430; ENSP00000340118; ENSG00000189067 [Q99732-1]
ENST00000381810; ENSP00000371231; ENSG00000189067 [Q99732-2]
ENST00000413364; ENSP00000397958; ENSG00000189067 [Q99732-3]
ENST00000570904; ENSP00000459138; ENSG00000189067 [Q99732-1]
ENST00000571688; ENSP00000459533; ENSG00000189067 [Q99732-1]
ENST00000574763; ENSP00000461813; ENSG00000189067 [Q99732-1]
ENST00000576036; ENSP00000461667; ENSG00000189067 [Q99732-1]
ENST00000620789; ENSP00000481589; ENSG00000189067 [Q99732-3]
ENST00000622633; ENSP00000483114; ENSG00000189067 [Q99732-1]
GeneIDi9516
KEGGihsa:9516
UCSCiuc002daz.4 human [Q99732-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9516
DisGeNETi9516
EuPathDBiHostDB:ENSG00000189067.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
LITAF
GeneReviewsiLITAF

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0134387
HGNCiHGNC:16841 LITAF
HPAiHPA006960
MalaCardsiLITAF
MIMi601098 phenotype
603795 gene
neXtProtiNX_Q99732
OpenTargetsiENSG00000189067
Orphaneti101083 Charcot-Marie-Tooth disease type 1C
PharmGKBiPA134879224

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IVVU Eukaryota
ENOG41122PJ LUCA
GeneTreeiENSGT00940000155366
HOGENOMiHOG000039585
HOVERGENiHBG006272
InParanoidiQ99732
KOiK19363
OMAiTMAINSH
OrthoDBi1564782at2759
PhylomeDBiQ99732
TreeFamiTF313294

Enzyme and pathway databases

SIGNORiQ99732

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
LITAF human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
LITAF

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
9516

Protein Ontology

More...
PROi
PR:Q99732

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000189067 Expressed in 237 organ(s), highest expression level in epithelium of bronchus
ExpressionAtlasiQ99732 baseline and differential
GenevisibleiQ99732 HS

Family and domain databases

InterProiView protein in InterPro
IPR006629 LITAF
IPR037519 LITAF_fam
PANTHERiPTHR23292 PTHR23292, 1 hit
PfamiView protein in Pfam
PF10601 zf-LITAF-like, 1 hit
SMARTiView protein in SMART
SM00714 LITAF, 1 hit
PROSITEiView protein in PROSITE
PS51837 LITAF, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLITAF_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q99732
Secondary accession number(s): D3DUG1
, G5E9K0, Q05DW0, Q9C0L6
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: December 6, 2005
Last modified: April 10, 2019
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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