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Entry version 196 (16 Oct 2019)
Sequence version 3 (06 Mar 2007)
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Protein

Anosmin-1

Gene

ANOS1

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

Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex (By similarity). Chemoattractant for fetal olfactory epithelial cells.By similarity1 Publication

<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 functionHeparin-binding, Protease inhibitor, Serine protease inhibitor
Biological processCell adhesion, Chemotaxis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-190373 FGFR1c ligand binding and activation
R-HSA-5654726 Negative regulation of FGFR1 signaling

Protein family/group databases

MEROPS protease database

More...
MEROPSi
I17.004

<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:
Anosmin-11 PublicationImported
Alternative name(s):
Adhesion molecule-like X-linked
Kallmann syndrome 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:ANOS1Imported
Synonyms:ADMLX, KAL, KAL1, KALIG1
<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 X

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:6211 ANOS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
300836 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P23352

<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, Membrane, Secreted

<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

Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)15 Publications
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. The genetics of hypogonadotropic hypogonadism involves various modes of transmission. Oligogenic inheritance has been reported in some patients carrying mutations in ANOS1 as well as in other HH-associated genes including FGFR1 and TACR3 (PubMed:23643382).1 Publication
Disease descriptionA disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Related information in OMIM
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_065362134C → G in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_065363163C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031012163C → Y in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031011163Missing in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031013172C → R in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs1394625082Ensembl.1
Natural variantiVAR_031014262R → P in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_007720267N → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding. 3 Publications1
Natural variantiVAR_031015304N → S in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs140812865Ensembl.1
Natural variantiVAR_031016396S → L in HH1; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant dbSNP:rs137852517EnsemblClinVar.1
Natural variantiVAR_012742514E → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding. 4 PublicationsCorresponds to variant dbSNP:rs137852515EnsemblClinVar.1
Natural variantiVAR_031017517F → L in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. 3 Publications1
Natural variantiVAR_065364539E → K in HH1. 1 PublicationCorresponds to variant dbSNP:rs144586521Ensembl.1
Natural variantiVAR_031018571W → R in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs1170543613Ensembl.1
Natural variantiVAR_069968587V → L in HH1; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1. 1 PublicationCorresponds to variant dbSNP:rs137900287EnsemblClinVar.1
Natural variantiVAR_072992672H → R in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs199771303EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Hypogonadotropic hypogonadism, Kallmann syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
3730

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

More...
GeneReviewsi
ANOS1

MalaCards human disease database

More...
MalaCardsi
ANOS1
MIMi308700 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000011201

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

More...
Orphaneti
478 Kallmann syndrome
432 Normosmic congenital hypogonadotropic hypogonadism

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA30012

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
P23352

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ANOS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
134048661

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 24Sequence analysisAdd BLAST24
<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_000004139525 – 680Anosmin-1Add BLAST656

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi49 ↔ 83PROSITE-ProRule annotation1 Publication
Disulfide bondi53 ↔ 77PROSITE-ProRule annotation1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi71N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi86 ↔ 105PROSITE-ProRule annotation1 Publication
Disulfide bondi90 ↔ 101PROSITE-ProRule annotation1 Publication
Disulfide bondi116 ↔ 120PROSITE-ProRule annotation1 Publication
Glycosylationi209N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi300N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi470N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi553N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi564N-linked (GlcNAc...) asparagineSequence analysis1

<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

N-glycosylated.1 Publication
May be proteolytically cleaved at the cell surface and released from the cell surface.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P23352

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P23352

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
P23352

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

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PaxDbi
P23352

PeptideAtlas

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PeptideAtlasi
P23352

PRoteomics IDEntifications database

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PRIDEi
P23352

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
54081

Consortium for Top Down Proteomics

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TopDownProteomicsi
P23352

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P23352

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

More...
PhosphoSitePlusi
P23352

<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 in the cerebellum (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000011201 Expressed in 203 organ(s), highest expression level in spinal cord

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P23352 HS

<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 with FGFR1; this interaction does not interfere with FGF2-binding to FGFR1. Binds heparin. Heparin may promote or interfere with ANOS1-FGFR1-FGF2 complex formation depending on the sequential order of its binding to the various constituents. For instance, heparin-ANOS1 interaction favors subsequent binding to pre-existing binary FGFR1-FGF2 complex, while heparin-FGF2 complex does not interact with ANOS1-FGFR1.

1 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
FGFR1P113627EBI-5272188,EBI-1028277

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
109933, 11 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P23352

Protein interaction database and analysis system

More...
IntActi
P23352, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000262648

<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
P23352

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
P23352

<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>Domaini127 – 176WAPPROSITE-ProRule annotationAdd BLAST50
Domaini186 – 287Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST102
Domaini292 – 400Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST109
Domaini425 – 523Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST99
Domaini550 – 658Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST109

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4802 Eukaryota
ENOG4111T0F LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00440000033720

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113190

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P23352

KEGG Orthology (KO)

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KOi
K23413

Identification of Orthologs from Complete Genome Data

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OMAi
LKHHHPH

Database of Orthologous Groups

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OrthoDBi
979841at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P23352

TreeFam database of animal gene trees

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TreeFami
TF318736

Family and domain databases

Conserved Domains Database

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CDDi
cd00063 FN3, 3 hits

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 3 hits
4.10.75.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR042447 Anosmin-1
IPR040957 Anosmin-1_Cys_box
IPR036645 Elafin-like_sf
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR008197 WAP_dom

The PANTHER Classification System

More...
PANTHERi
PTHR14131 PTHR14131, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF17869 Cys_box, 1 hit
PF00041 fn3, 3 hits
PF00095 WAP, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00003 4DISULPHCORE

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00060 FN3, 4 hits
SM00217 WAP, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49265 SSF49265, 2 hits
SSF57256 SSF57256, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50853 FN3, 4 hits
PS51390 WAP, 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>Sequencei

<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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

P23352-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVPGVPGAVL TLCLWLAASS GCLAAGPGAA AARRLDESLS AGSVQRARCA
60 70 80 90 100
SRCLSLQITR ISAFFQHFQN NGSLVWCQNH KQCSKCLEPC KESGDLRKHQ
110 120 130 140 150
CQSFCEPLFP KKSYECLTSC EFLKYILLVK QGDCPAPEKA SGFAAACVES
160 170 180 190 200
CEVDNECSGV KKCCSNGCGH TCQVPKTLYK GVPLKPRKEL RFTELQSGQL
210 220 230 240 250
EVKWSSKFNI SIEPVIYVVQ RRWNYGIHPS EDDATHWQTV AQTTDERVQL
260 270 280 290 300
TDIRPSRWYQ FRVAAVNVHG TRGFTAPSKH FRSSKDPSAP PAPANLRLAN
310 320 330 340 350
STVNSDGSVT VTIVWDLPEE PDIPVHHYKV FWSWMVSSKS LVPTKKKRRK
360 370 380 390 400
TTDGFQNSVI LEKLQPDCDY VVELQAITYW GQTRLKSAKV SLHFTSTHAT
410 420 430 440 450
NNKEQLVKTR KGGIQTQLPF QRRRPTRPLE VGAPFYQDGQ LQVKVYWKKT
460 470 480 490 500
EDPTVNRYHV RWFPEACAHN RTTGSEASSG MTHENYIILQ DLSFSCKYKV
510 520 530 540 550
TVQPIRPKSH SKAEAVFFTT PPCSALKGKS HKPVGCLGEA GHVLSKVLAK
560 570 580 590 600
PENLSASFIV QDVNITGHFS WKMAKANLYQ PMTGFQVTWA EVTTESRQNS
610 620 630 640 650
LPNSIISQSQ ILPSDHYVLT VPNLRPSTLY RLEVQVLTPG GEGPATIKTF
660 670 680
RTPELPPSSA HRSHLKHRHP HHYKPSPERY
Length:680
Mass (Da):76,112
Last modified:March 6, 2007 - v3
<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:iF491FE94FFD9250E
GO

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 conflicti48R → P in AAA59202 (PubMed:1913827).Curated1
Sequence conflicti48R → P in CAA42841 (PubMed:1922361).Curated1
Sequence conflicti48R → P in CAA57554 (PubMed:7590336).Curated1
Sequence conflicti70 – 71NN → VR in CAA57554 (PubMed:7590336).Curated2
Sequence conflicti373E → K in CAA42841 (PubMed:1922361).Curated1
Sequence conflicti540A → R in CAA42841 (PubMed:1922361).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065362134C → G in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_065363163C → R in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031012163C → Y in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031011163Missing in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_031013172C → R in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs1394625082Ensembl.1
Natural variantiVAR_069207217Y → D Probable disease-associated mutation found in a patient with Kallmann syndrome; the patient also carries mutation Ala-688 in SEMA3A. 1 Publication1
Natural variantiVAR_031014262R → P in HH1; phenotype consistent with Kallmann syndrome. 1 Publication1
Natural variantiVAR_007720267N → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; complete loss of FGFR1-binding. 3 Publications1
Natural variantiVAR_031015304N → S in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs140812865Ensembl.1
Natural variantiVAR_031016396S → L in HH1; phenotype consistent with Kallmann syndrome. 2 PublicationsCorresponds to variant dbSNP:rs137852517EnsemblClinVar.1
Natural variantiVAR_012742514E → K in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; reduced FGFR1-binding. 4 PublicationsCorresponds to variant dbSNP:rs137852515EnsemblClinVar.1
Natural variantiVAR_031017517F → L in HH1; phenotype consistent with Kallmann syndrome; loss of effect on the migratory activity of GnRH neurons; Reduced FGFR1-binding. 3 Publications1
Natural variantiVAR_007721534V → I10 PublicationsCorresponds to variant dbSNP:rs808119EnsemblClinVar.1
Natural variantiVAR_065364539E → K in HH1. 1 PublicationCorresponds to variant dbSNP:rs144586521Ensembl.1
Natural variantiVAR_031018571W → R in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs1170543613Ensembl.1
Natural variantiVAR_069968587V → L in HH1; phenotype consistent with normosmic idiopathic hypogonadotropic hypogonadism; the patient also carries a mutation in FGFR1. 1 PublicationCorresponds to variant dbSNP:rs137900287EnsemblClinVar.1
Natural variantiVAR_031019666K → M1 Publication1
Natural variantiVAR_031020668R → H2 PublicationsCorresponds to variant dbSNP:rs775708192Ensembl.1
Natural variantiVAR_072992672H → R in HH1; phenotype consistent with Kallmann syndrome. 1 PublicationCorresponds to variant dbSNP:rs199771303EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M97252 mRNA Translation: AAA59202.1
S60085 mRNA Translation: AAB20108.1 Sequence problems.
X60299 mRNA Translation: CAA42841.1
AC005184 Genomic DNA No translation available.
AC006062 Genomic DNA No translation available.
AC096511 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW98759.1
BC137426 mRNA Translation: AAI37427.1
BC137427 mRNA Translation: AAI37428.1
X82034 Genomic DNA Translation: CAA57554.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS14130.1

Protein sequence database of the Protein Information Resource

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PIRi
A40351
S17982

NCBI Reference Sequences

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RefSeqi
NP_000207.2, NM_000216.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000262648; ENSP00000262648; ENSG00000011201

Database of genes from NCBI RefSeq genomes

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GeneIDi
3730

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3730

UCSC genome browser

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UCSCi
uc004csf.3 human

Keywords - Coding sequence diversityi

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M97252 mRNA Translation: AAA59202.1
S60085 mRNA Translation: AAB20108.1 Sequence problems.
X60299 mRNA Translation: CAA42841.1
AC005184 Genomic DNA No translation available.
AC006062 Genomic DNA No translation available.
AC096511 Genomic DNA No translation available.
CH471074 Genomic DNA Translation: EAW98759.1
BC137426 mRNA Translation: AAI37427.1
BC137427 mRNA Translation: AAI37428.1
X82034 Genomic DNA Translation: CAA57554.1
CCDSiCCDS14130.1
PIRiA40351
S17982
RefSeqiNP_000207.2, NM_000216.3

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ZLGX-ray-A24-680[»]
SMRiP23352
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi109933, 11 interactors
CORUMiP23352
IntActiP23352, 3 interactors
STRINGi9606.ENSP00000262648

Protein family/group databases

MEROPSiI17.004

PTM databases

iPTMnetiP23352
PhosphoSitePlusiP23352

Polymorphism and mutation databases

BioMutaiANOS1
DMDMi134048661

Proteomic databases

EPDiP23352
jPOSTiP23352
MassIVEiP23352
PaxDbiP23352
PeptideAtlasiP23352
PRIDEiP23352
ProteomicsDBi54081
TopDownProteomicsiP23352

Genome annotation databases

EnsembliENST00000262648; ENSP00000262648; ENSG00000011201
GeneIDi3730
KEGGihsa:3730
UCSCiuc004csf.3 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
3730
DisGeNETi3730

GeneCards: human genes, protein and diseases

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GeneCardsi
ANOS1
GeneReviewsiANOS1
HGNCiHGNC:6211 ANOS1
MalaCardsiANOS1
MIMi300836 gene
308700 phenotype
neXtProtiNX_P23352
OpenTargetsiENSG00000011201
Orphaneti478 Kallmann syndrome
432 Normosmic congenital hypogonadotropic hypogonadism
PharmGKBiPA30012

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4802 Eukaryota
ENOG4111T0F LUCA
GeneTreeiENSGT00440000033720
HOGENOMiHOG000113190
InParanoidiP23352
KOiK23413
OMAiLKHHHPH
OrthoDBi979841at2759
PhylomeDBiP23352
TreeFamiTF318736

Enzyme and pathway databases

ReactomeiR-HSA-190373 FGFR1c ligand binding and activation
R-HSA-5654726 Negative regulation of FGFR1 signaling

Miscellaneous databases

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

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ChiTaRSi
ANOS1 human
EvolutionaryTraceiP23352

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

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GenomeRNAii
3730
PharosiP23352

Protein Ontology

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PROi
PR:P23352

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000011201 Expressed in 203 organ(s), highest expression level in spinal cord
GenevisibleiP23352 HS

Family and domain databases

CDDicd00063 FN3, 3 hits
Gene3Di2.60.40.10, 3 hits
4.10.75.10, 1 hit
InterProiView protein in InterPro
IPR042447 Anosmin-1
IPR040957 Anosmin-1_Cys_box
IPR036645 Elafin-like_sf
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR008197 WAP_dom
PANTHERiPTHR14131 PTHR14131, 1 hit
PfamiView protein in Pfam
PF17869 Cys_box, 1 hit
PF00041 fn3, 3 hits
PF00095 WAP, 1 hit
PRINTSiPR00003 4DISULPHCORE
SMARTiView protein in SMART
SM00060 FN3, 4 hits
SM00217 WAP, 1 hit
SUPFAMiSSF49265 SSF49265, 2 hits
SSF57256 SSF57256, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 4 hits
PS51390 WAP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiKALM_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: P23352
Secondary accession number(s): B2RPF8
<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: November 1, 1991
Last sequence update: March 6, 2007
Last modified: October 16, 2019
This is version 196 of the entry and version 3 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  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 X
    Human chromosome X: 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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