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Entry version 124 (31 Jul 2019)
Sequence version 2 (15 May 2007)
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Protein

Girdin

Gene

CCDC88A

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 as a key modulator of the AKT-mTOR signaling pathway controlling the tempo of the process of newborn neurons integration during adult neurogenesis, including correct neuron positioning, dendritic development and synapse formation (By similarity). Enhances phosphoinositide 3-kinase (PI3K)-dependent phosphorylation and kinase activity of AKT1/PKB, but does not possess kinase activity itself (By similarity). Phosphorylation of AKT1/PKB thereby induces the phosphorylation of downstream effectors GSK3 and FOXO1/FKHR, and regulates DNA replication and cell proliferation (By similarity). Essential for the integrity of the actin cytoskeleton and for cell migration (PubMed:16139227). Required for formation of actin stress fibers and lamellipodia (PubMed:15882442). May be involved in membrane sorting in the early endosome (PubMed:15882442). Plays a role in ciliogenesis and cilium morphology and positioning and this may partly be through regulation of the localization of scaffolding protein CROCC/Rootletin (PubMed:27623382).By similarity3 Publications

<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

Biological processCilium biogenesis/degradation, DNA replication, Neurogenesis

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
Q3V6T2

<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:
Girdin
Alternative name(s):
Akt phosphorylation enhancer
Short name:
APE
Coiled-coil domain-containing protein 88A
G alpha-interacting vesicle-associated protein
Short name:
GIV
Girders of actin filament
Hook-related protein 1
Short name:
HkRP1
<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:CCDC88A
Synonyms:APEImported, GRDN, KIAA1212Imported
<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 2

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:25523 CCDC88A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609736 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q3V6T2

<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, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Membrane

<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

PEHO-like syndrome (PEHOL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by microcephaly and moderately severe hypotonia manifesting at birth, seizures that progress into infantile spasms with hypsarrhythmia, brain atrophy with bilateral polymicrogyria and pachygyria, thin corpus callosum, and mild reduction in cerebellar vermis volume. Patients also display optic atrophy, severe cognitive delay, puffiness of the maxillary region of the face, and edema of the dorsum of the hands and feet.
Related information in OMIM

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>Mutagenesisi1417S → A: Disrupts actin organization, cell migration and lamellipodia formation. 1 Publication1

Keywords - Diseasei

Epilepsy, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
55704

MalaCards human disease database

More...
MalaCardsi
CCDC88A
MIMi617507 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000115355

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

More...
Orphaneti
99807 PEHO-like syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162381751

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CCDC88A

Domain mapping of disease mutations (DMDM)

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DMDMi
147644956

<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_00002874291 – 1871GirdinAdd BLAST1871

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei233PhosphoserineCombined sources1
Modified residuei237PhosphoserineBy similarity1
Modified residuei449PhosphoserineCombined sources1
Modified residuei1020PhosphoserineCombined sources1
Modified residuei1387PhosphoserineCombined sources1
Modified residuei1417Phosphoserine; by PKB/AKT1Combined sources1 Publication1
Modified residuei1421PhosphothreonineCombined sources1
Modified residuei1673PhosphothreonineCombined sources1
Modified residuei1675PhosphoserineBy similarity1
Modified residuei1717PhosphoserineCombined sources1
Modified residuei1820PhosphoserineCombined sources1
Modified residuei1837PhosphoserineCombined sources1

<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

Phosphorylation is induced by epidermal growth factor (EGF) in a phosphoinositide 3-kinase (PI3K)-dependent manner. Phosphorylation by AKT1/PKB is necessary for the delocalization from the cell membrane and for cell migration.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q3V6T2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q3V6T2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q3V6T2

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

More...
PaxDbi
Q3V6T2

PeptideAtlas

More...
PeptideAtlasi
Q3V6T2

PRoteomics IDEntifications database

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PRIDEi
Q3V6T2

ProteomicsDB human proteome resource

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ProteomicsDBi
61886 [Q3V6T2-1]
61887 [Q3V6T2-2]
61888 [Q3V6T2-3]
61889 [Q3V6T2-4]
7248

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q3V6T2

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

More...
PhosphoSitePlusi
Q3V6T2

<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

Expressed ubiquitously.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000115355 Expressed in 208 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q3V6T2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q3V6T2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038101
HPA038102

<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

Interacts (via C-terminus) with DISC1; the interaction is direct.

Interacts with AKT proteins; the interaction is inhibited in presence of DISC1 (By similarity). Homodimer. The non-phosphorylated form interacts with phosphatidylinositol 4-phosphate [PI4P] and weakly with phosphatidylinositol 3-phosphate [PI3P].

Interacts with microtubules.

Interacts with actin through its C-terminal domain.

Interacts with the C-terminus of AKT1/PKB.

By similarity1 Publication

<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

WithEntry#Exp.IntActNotes
DISC1Q9NRI53EBI-2266839,EBI-529989

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120829, 100 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q3V6T2

Database of interacting proteins

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DIPi
DIP-50784N

Protein interaction database and analysis system

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IntActi
Q3V6T2, 50 interactors

Molecular INTeraction database

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MINTi
Q3V6T2

STRING: functional protein association networks

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STRINGi
9606.ENSP00000338728

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q3V6T2

Database of comparative protein structure models

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ModBasei
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>Domaini12 – 132Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST121

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>Regioni1390 – 1408Phosphoinositide-binding1 PublicationAdd BLAST19

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili196 – 425Sequence analysisAdd BLAST230
Coiled coili458 – 1385Sequence analysisAdd BLAST928

<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 CCDC88 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4643 Eukaryota
ENOG410YFRJ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155559

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000112146

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q3V6T2

Identification of Orthologs from Complete Genome Data

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OMAi
WTGSSEH

Database of Orthologous Groups

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OrthoDBi
59187at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q3V6T2

TreeFam database of animal gene trees

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TreeFami
TF320231

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.418.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR027717 Girdin
IPR008636 Hook-like_fam

The PANTHER Classification System

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PANTHERi
PTHR18947:SF30 PTHR18947:SF30, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF05622 HOOK, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50021 CH, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)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 5 <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 5 described isoforms and 33 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q3V6T2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MENEIFTPLL EQFMTSPLVT WVKTFGPLAA GNGTNLDEYV ALVDGVFLNQ
60 70 80 90 100
VMLQINPKLE SQRVNKKVNN DASLRMHNLS ILVRQIKFYY QETLQQLIMM
110 120 130 140 150
SLPNVLIIGK NPFSEQGTEE VKKLLLLLLG CAVQCQKKEE FIERIQGLDF
160 170 180 190 200
DTKAAVAAHI QEVTHNQENV FDLQWMEVTD MSQEDIEPLL KNMALHLKRL
210 220 230 240 250
IDERDEHSET IIELSEERDG LHFLPHASSS AQSPCGSPGM KRTESRQHLS
260 270 280 290 300
VELADAKAKI RRLRQELEEK TEQLLDCKQE LEQMEIELKR LQQENMNLLS
310 320 330 340 350
DARSARMYRD ELDALREKAV RVDKLESEVS RYKERLHDIE FYKARVEELK
360 370 380 390 400
EDNQVLLETK TMLEDQLEGT RARSDKLHEL EKENLQLKAK LHDMEMERDM
410 420 430 440 450
DRKKIEELME ENMTLEMAQK QSMDESLHLG WELEQISRTS ELSEAPQKSL
460 470 480 490 500
GHEVNELTSS RLLKLEMENQ SLTKTVEELR TTVDSVEGNA SKILKMEKEN
510 520 530 540 550
QRLSKKVEIL ENEIVQEKQS LQNCQNLSKD LMKEKAQLEK TIETLRENSE
560 570 580 590 600
RQIKILEQEN EHLNQTVSSL RQRSQISAEA RVKDIEKENK ILHESIKETS
610 620 630 640 650
SKLSKIEFEK RQIKKELEHY KEKGERAEEL ENELHHLEKE NELLQKKITN
660 670 680 690 700
LKITCEKIEA LEQENSELER ENRKLKKTLD SFKNLTFQLE SLEKENSQLD
710 720 730 740 750
EENLELRRNV ESLKCASMKM AQLQLENKEL ESEKEQLKKG LELLKASFKK
760 770 780 790 800
TERLEVSYQG LDIENQRLQK TLENSNKKIQ QLESELQDLE MENQTLQKNL
810 820 830 840 850
EELKISSKRL EQLEKENKSL EQETSQLEKD KKQLEKENKR LRQQAEIKDT
860 870 880 890 900
TLEENNVKIG NLEKENKTLS KEIGIYKESC VRLKELEKEN KELVKRATID
910 920 930 940 950
IKTLVTLRED LVSEKLKTQQ MNNDLEKLTH ELEKIGLNKE RLLHDEQSTD
960 970 980 990 1000
DSRYKLLESK LESTLKKSLE IKEEKIAALE ARLEESTNYN QQLRQELKTV
1010 1020 1030 1040 1050
KKNYEALKQR QDEERMVQSS PPISGEDNKW ERESQETTRE LLKVKDRLIE
1060 1070 1080 1090 1100
VERNNATLQA EKQALKTQLK QLETQNNNLQ AQILALQRQT VSLQEQNTTL
1110 1120 1130 1140 1150
QTQNAKLQVE NSTLNSQSTS LMNQNAQLLI QQSSLENENE SVIKEREDLK
1160 1170 1180 1190 1200
SLYDSLIKDH EKLELLHERQ ASEYESLISK HGTLKSAHKN LEVEHRDLED
1210 1220 1230 1240 1250
RYNQLLKQKG QLEDLEKMLK VEQEKMLLEN KNHETVAAEY KKLCGENDRL
1260 1270 1280 1290 1300
NHTYSQLLKE TEVLQTDHKN LKSLLNNSKL EQTRLEAEFS KLKEQYQQLD
1310 1320 1330 1340 1350
ITSTKLNNQC ELLSQLKGNL EEENRHLLDQ IQTLMLQNRT LLEQNMESKD
1360 1370 1380 1390 1400
LFHVEQRQYI DKLNELRRQK EKLEEKIMDQ YKFYDPSPPR RRGNWITLKM
1410 1420 1430 1440 1450
RKLIKSKKDI NRERQKSLTL TPTRSDSSEG FLQLPHQDSQ DSSSVGSNSL
1460 1470 1480 1490 1500
EDGQTLGTKK SSMVALKRLP FLRNRPKDKD KMKACYRRSM SMNDLVQSMV
1510 1520 1530 1540 1550
LAGQWTGSTE NLEVPDDIST GKRRKELGAM AFSTTAINFS TVNSSAGFRS
1560 1570 1580 1590 1600
KQLVNNKDTT SFEDISPQGV SDDSSTGSRV HASRPASLDS GRTSTSNSNN
1610 1620 1630 1640 1650
NASLHEVKAG AVNNQSRPQS HSSGEFSLLH DHEAWSSSGS SPIQYLKRQT
1660 1670 1680 1690 1700
RSSPVLQHKI SETLESRHHK IKTGSPGSEV VTLQQFLEES NKLTSVQIKS
1710 1720 1730 1740 1750
SSQENLLDEV MKSLSVSSDF LGKDKPVSCG LARSVSGKTP GDFYDRRTTK
1760 1770 1780 1790 1800
PEFLRPGPRK TEDTYFISSA GKPTPGTQGK IKLVKESSLS RQSKDSNPYA
1810 1820 1830 1840 1850
TLPRASSVIS TAEGTTRRTS IHDFLTKDSR LPISVDSPPA AADSNTTAAS
1860 1870
NVDKVQESRN SKSRSREQQS S
Length:1,871
Mass (Da):216,042
Last modified:May 15, 2007 - 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:i9DD2E06F2A235AA5
GO
Isoform 22 Publications (identifier: Q3V6T2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1463-1491: MVALKRLPFLRNRPKDKDKMKACYRRSMS → T

Show »
Length:1,843
Mass (Da):212,620
Checksum:i32BCF709F5ADEDC0
GO
Isoform 3 (identifier: Q3V6T2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     952-952: Missing.

Show »
Length:1,870
Mass (Da):215,954
Checksum:i259F771ECE3DDCFD
GO
Isoform 4 (identifier: Q3V6T2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     952-952: Missing.
     1463-1491: MVALKRLPFLRNRPKDKDKMKACYRRSMS → T

Show »
Length:1,842
Mass (Da):212,533
Checksum:i48C4D509CC7EEE68
GO
Isoform 5 (identifier: Q3V6T2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     952-952: Missing.
     1733-1806: Missing.

Note: No experimental confirmation available.
Show »
Length:1,796
Mass (Da):207,797
Checksum:iDE7B152EACCC2422
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 33 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C2C6H7C2C6_HUMAN
Girdin
CCDC88A
1,202Annotation 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>
H0Y470H0Y470_HUMAN
Girdin
CCDC88A
888Annotation 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>
H0Y7U8H0Y7U8_HUMAN
Girdin
CCDC88A
736Annotation 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>
A0A2U3TZV9A0A2U3TZV9_HUMAN
Girdin
CCDC88A
1,797Annotation 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>
A0A2R8YG73A0A2R8YG73_HUMAN
Girdin
CCDC88A
1,494Annotation 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>
A0A2R8Y4W8A0A2R8Y4W8_HUMAN
Girdin
CCDC88A
1,493Annotation 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>
A0A2R8Y846A0A2R8Y846_HUMAN
Girdin
CCDC88A
268Annotation 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>
A0A2R8YCU9A0A2R8YCU9_HUMAN
Girdin
CCDC88A
1,108Annotation 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>
A0A2R8Y885A0A2R8Y885_HUMAN
Girdin
CCDC88A
1,113Annotation 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>
A0A2R8Y7D4A0A2R8Y7D4_HUMAN
Girdin
CCDC88A
939Annotation 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

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAY14932 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAD97945 differs from that shown. Intron retention at the C-terminus.Curated
The sequence CAI46020 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1066K → E in CAI46020 (PubMed:17974005).Curated1
Sequence conflicti1081A → T in CAD97945 (PubMed:17974005).Curated1
Sequence conflicti1661S → P in CAD97945 (PubMed:17974005).Curated1
Sequence conflicti1710V → I in CAI46020 (PubMed:17974005).Curated1
Sequence conflicti1799Y → H in CAD98038 (PubMed:17974005).Curated1
Sequence conflicti1836D → G in CAI46020 (PubMed:17974005).Curated1

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_040129952Missing in isoform 3, isoform 4 and isoform 5. 3 Publications1
Alternative sequenceiVSP_0524091463 – 1491MVALK…RRSMS → T in isoform 2 and isoform 4. 4 PublicationsAdd BLAST29
Alternative sequenceiVSP_0449431733 – 1806Missing in isoform 5. 1 PublicationAdd BLAST74

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
AB201172 mRNA Translation: BAE44387.1
AB125644 mRNA Translation: BAF44475.1
AC019198 Genomic DNA Translation: AAY14932.1 Different initiation.
AC092176 Genomic DNA Translation: AAX82029.1
AC012358 Genomic DNA No translation available.
BC132736 mRNA Translation: AAI32737.1
BC144320 mRNA Translation: AAI44321.1
BX537985 mRNA Translation: CAD97945.1 Sequence problems.
BX538154 mRNA Translation: CAD98038.1
BX648138 mRNA Translation: CAI46020.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33203.1 [Q3V6T2-2]
CCDS46288.1 [Q3V6T2-3]
CCDS58710.1 [Q3V6T2-5]

NCBI Reference Sequences

More...
RefSeqi
NP_001129069.1, NM_001135597.1 [Q3V6T2-3]
NP_001241872.1, NM_001254943.1 [Q3V6T2-5]
NP_060554.3, NM_018084.4 [Q3V6T2-2]
XP_011531267.1, XM_011532965.2
XP_011531268.1, XM_011532966.2 [Q3V6T2-1]
XP_011531269.1, XM_011532967.2 [Q3V6T2-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000263630; ENSP00000263630; ENSG00000115355 [Q3V6T2-2]
ENST00000336838; ENSP00000338728; ENSG00000115355 [Q3V6T2-3]
ENST00000436346; ENSP00000410608; ENSG00000115355 [Q3V6T2-1]
ENST00000642200; ENSP00000495919; ENSG00000115355 [Q3V6T2-1]
ENST00000643413; ENSP00000494811; ENSG00000115355 [Q3V6T2-4]
ENST00000646796; ENSP00000493703; ENSG00000115355 [Q3V6T2-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55704

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55704

UCSC genome browser

More...
UCSCi
uc002ryv.3 human [Q3V6T2-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB201172 mRNA Translation: BAE44387.1
AB125644 mRNA Translation: BAF44475.1
AC019198 Genomic DNA Translation: AAY14932.1 Different initiation.
AC092176 Genomic DNA Translation: AAX82029.1
AC012358 Genomic DNA No translation available.
BC132736 mRNA Translation: AAI32737.1
BC144320 mRNA Translation: AAI44321.1
BX537985 mRNA Translation: CAD97945.1 Sequence problems.
BX538154 mRNA Translation: CAD98038.1
BX648138 mRNA Translation: CAI46020.1 Different initiation.
CCDSiCCDS33203.1 [Q3V6T2-2]
CCDS46288.1 [Q3V6T2-3]
CCDS58710.1 [Q3V6T2-5]
RefSeqiNP_001129069.1, NM_001135597.1 [Q3V6T2-3]
NP_001241872.1, NM_001254943.1 [Q3V6T2-5]
NP_060554.3, NM_018084.4 [Q3V6T2-2]
XP_011531267.1, XM_011532965.2
XP_011531268.1, XM_011532966.2 [Q3V6T2-1]
XP_011531269.1, XM_011532967.2 [Q3V6T2-2]

3D structure databases

SMRiQ3V6T2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120829, 100 interactors
CORUMiQ3V6T2
DIPiDIP-50784N
IntActiQ3V6T2, 50 interactors
MINTiQ3V6T2
STRINGi9606.ENSP00000338728

PTM databases

iPTMnetiQ3V6T2
PhosphoSitePlusiQ3V6T2

Polymorphism and mutation databases

BioMutaiCCDC88A
DMDMi147644956

Proteomic databases

EPDiQ3V6T2
jPOSTiQ3V6T2
MaxQBiQ3V6T2
PaxDbiQ3V6T2
PeptideAtlasiQ3V6T2
PRIDEiQ3V6T2
ProteomicsDBi61886 [Q3V6T2-1]
61887 [Q3V6T2-2]
61888 [Q3V6T2-3]
61889 [Q3V6T2-4]
7248

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263630; ENSP00000263630; ENSG00000115355 [Q3V6T2-2]
ENST00000336838; ENSP00000338728; ENSG00000115355 [Q3V6T2-3]
ENST00000436346; ENSP00000410608; ENSG00000115355 [Q3V6T2-1]
ENST00000642200; ENSP00000495919; ENSG00000115355 [Q3V6T2-1]
ENST00000643413; ENSP00000494811; ENSG00000115355 [Q3V6T2-4]
ENST00000646796; ENSP00000493703; ENSG00000115355 [Q3V6T2-5]
GeneIDi55704
KEGGihsa:55704
UCSCiuc002ryv.3 human [Q3V6T2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55704
DisGeNETi55704

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CCDC88A
HGNCiHGNC:25523 CCDC88A
HPAiHPA038101
HPA038102
MalaCardsiCCDC88A
MIMi609736 gene
617507 phenotype
neXtProtiNX_Q3V6T2
OpenTargetsiENSG00000115355
Orphaneti99807 PEHO-like syndrome
PharmGKBiPA162381751

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4643 Eukaryota
ENOG410YFRJ LUCA
GeneTreeiENSGT00940000155559
HOGENOMiHOG000112146
InParanoidiQ3V6T2
OMAiWTGSSEH
OrthoDBi59187at2759
PhylomeDBiQ3V6T2
TreeFamiTF320231

Enzyme and pathway databases

SIGNORiQ3V6T2

Miscellaneous databases

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

More...
ChiTaRSi
CCDC88A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
CCDC88A

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

More...
GenomeRNAii
55704

Protein Ontology

More...
PROi
PR:Q3V6T2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000115355 Expressed in 208 organ(s), highest expression level in testis
ExpressionAtlasiQ3V6T2 baseline and differential
GenevisibleiQ3V6T2 HS

Family and domain databases

Gene3Di1.10.418.10, 1 hit
InterProiView protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR027717 Girdin
IPR008636 Hook-like_fam
PANTHERiPTHR18947:SF30 PTHR18947:SF30, 1 hit
PfamiView protein in Pfam
PF05622 HOOK, 1 hit
PROSITEiView protein in PROSITE
PS50021 CH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiGRDN_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: Q3V6T2
Secondary accession number(s): A1IGE7
, B7ZM78, C9JG83, Q53SF1, Q581G3, Q5HYD0, Q7Z339, Q7Z3C5
<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 15, 2007
Last sequence update: May 15, 2007
Last modified: July 31, 2019
This is version 124 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 chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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