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Entry version 157 (02 Dec 2020)
Sequence version 3 (14 Apr 2009)
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Protein

Immunoglobulin superfamily member 1

Gene

IGSF1

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

Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription.By similarity1 Publication

Caution

It is uncertain whether Met-1 or Met-12 is the initiator.Curated

<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 functionReceptor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N6C5

<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%5Fand%5Ftaxonomy%5Fsection">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:
Immunoglobulin superfamily member 1
Short name:
IgSF1
Alternative name(s):
Immunoglobulin-like domain-containing protein 1
Inhibin-binding protein
Short name:
InhBP
Pituitary gland-specific factor 2
p120
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:IGSF1
Synonyms:IGDC1, KIAA0364, PGSF2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

Eukaryotic Pathogen and Host Database Resources

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EuPathDBi
HostDB:ENSG00000147255.18

Human Gene Nomenclature Database

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HGNCi
HGNC:5948, IGSF1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300137, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6C5

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini29 – 518ExtracellularSequence analysisAdd BLAST490
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei519 – 539HelicalSequence analysisAdd BLAST21
Topological domaini540 – 559CytoplasmicSequence analysisAdd BLAST20
Transmembranei560 – 580HelicalSequence analysisAdd BLAST21
Topological domaini581 – 1336ExtracellularSequence analysisAdd BLAST756

Keywords - Cellular componenti

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

Hypothyroidism, central, and testicular enlargement (CHTE)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood.
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_069268708 – 716Missing in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication9
Natural variantiVAR_069269765S → N in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication1
Natural variantiVAR_069270858S → F in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs397514622EnsemblClinVar.1
Natural variantiVAR_069271942C → R in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication1

Keywords - Diseasei

Congenital hypothyroidism, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
3547

MalaCards human disease database

More...
MalaCardsi
IGSF1
MIMi300888, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000147255

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

More...
Orphaneti
329235, X-linked central congenital hypothyroidism with late-onset testicular enlargement

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA29761

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N6C5, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IGSF1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
226694182

<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 – 28Sequence analysisAdd BLAST28
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000031851229 – 1336Immunoglobulin superfamily member 1Add BLAST1308

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
<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 bondi58 ↔ 106PROSITE-ProRule annotation
Disulfide bondi248 ↔ 296PROSITE-ProRule annotation
Glycosylationi338N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi343 ↔ 392PROSITE-ProRule annotation
Glycosylationi374N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi381N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi441 ↔ 484PROSITE-ProRule annotation
Glycosylationi607N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi703 ↔ 750PROSITE-ProRule annotation
Glycosylationi747N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi798N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi799 ↔ 849PROSITE-ProRule annotation
Glycosylationi846N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi895 ↔ 942PROSITE-ProRule annotation
Glycosylationi939N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi986N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1027N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1082N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1087 ↔ 1134PROSITE-ProRule annotation
Glycosylationi1147N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1183 ↔ 1226PROSITE-ProRule annotation
Glycosylationi1223N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N6C5

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N6C5

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N6C5

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

More...
PaxDbi
Q8N6C5

PeptideAtlas

More...
PeptideAtlasi
Q8N6C5

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6C5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
46220
72153 [Q8N6C5-1]
72154 [Q8N6C5-2]
72155 [Q8N6C5-3]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q8N6C5, 14 sites

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8N6C5

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

More...
PhosphoSitePlusi
Q8N6C5

<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

Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed in muscle. Isoform 3 is expressed in pituitary gland.3 Publications

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in embryo Carnegie stage 18 in Rathke's pouch progenitors.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000147255, Expressed in pituitary gland and 159 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N6C5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6C5, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000147255, Tissue enriched (pituitary)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with INHA (By similarity). In PubMed:12385827 does not interact with INHA; standard receptor binding assay.

Interacts with ACVR1B; the interaction appears to be ligand-dependent as it is diminished by inhibin B and activin A.

Interacts with ACVR2A, ACVR2B, ACVRL1 and BMPR1B.

Interacts with HECTD1.

By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
109763, 13 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6C5, 4 interactors

Molecular INTeraction database

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MINTi
Q8N6C5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000359940

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N6C5, protein

<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%5Fand%5Fdomains%5Fsection">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>Domaini38 – 122Ig-like C2-type 1Add BLAST85
Domaini137 – 222Ig-like C2-type 2Add BLAST86
Domaini226 – 312Ig-like C2-type 3Add BLAST87
Domaini321 – 408Ig-like C2-type 4Add BLAST88
Domaini419 – 500Ig-like C2-type 5Add BLAST82
Domaini589 – 677Ig-like C2-type 6Add BLAST89
Domaini686 – 760Ig-like C2-type 7Add BLAST75
Domaini777 – 869Ig-like C2-type 8Add BLAST93
Domaini873 – 958Ig-like C2-type 9Add BLAST86
Domaini965 – 1060Ig-like C2-type 10Add BLAST96
Domaini1065 – 1150Ig-like C2-type 11Add BLAST86
Domaini1161 – 1242Ig-like C2-type 12Add BLAST82

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502RYEX, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00980000198504

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_006143_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8N6C5

Identification of Orthologs from Complete Genome Data

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OMAi
VGKYKPP

Database of Orthologous Groups

More...
OrthoDBi
1327293at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8N6C5

TreeFam database of animal gene trees

More...
TreeFami
TF336644

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.60.40.10, 12 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR013151, Immunoglobulin

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00047, ig, 1 hit
PF13895, Ig_2, 6 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00409, IG, 11 hits
SM00408, IGc2, 9 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48726, SSF48726, 12 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50835, IG_LIKE, 6 hits

<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%5Flength">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 4 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8N6C5-1) [UniParc]FASTAAdd to basket
Also known as: InhBP-L, long

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
MTLDRPGEGA TMLKTFTVLL FCIRMSLGMT SIVMDPQPEL WIESNYPQAP
60 70 80 90 100
WENITLWCRS PSRISSKFLL LKDKTQMTWI RPSHKTFQVS FLIGALTESN
110 120 130 140 150
AGLYRCCYWK ETGWSKPSKV LELEAPGQLP KPIFWIQAET PALPGCNVNI
160 170 180 190 200
LCHGWLQDLV FMLFKEGYAE PVDYQVPTGT MAIFSIDNLT PEDEGVYICR
210 220 230 240 250
THIQMLPTLW SEPSNPLKLV VAGLYPKPTL TAHPGPIMAP GESLNLRCQG
260 270 280 290 300
PIYGMTFALM RVEDLEKSFY HKKTIKNEAN FFFQSLKIQD TGHYLCFYYD
310 320 330 340 350
ASYRGSLLSD VLKIWVTDTF PKTWLLARPS AVVQMGQNVS LRCRGPVDGV
360 370 380 390 400
GLALYKKGED KPLQFLDATS IDDNTSFFLN NVTYSDTGIY SCHYLLTWKT
410 420 430 440 450
SIRMPSHNTV ELMVVDKPPK PSLSAWPSTV FKLGKAITLQ CRVSHPVLEF
460 470 480 490 500
SLEWEERETF QKFSVNGDFI ISNVDGKGTG TYSCSYRVET HPNIWSHRSE
510 520 530 540 550
PLKLMGPAGY LTWNYVLNEA IRLSLIMQLV ALLLVVLWIR WKCRRLRIRE
560 570 580 590 600
AWLLGTAQGV TMLFIVTALL CCGLCNGVLI EETEIVMPTP KPELWAETNF
610 620 630 640 650
PLAPWKNLTL WCRSPSGSTK EFVLLKDGTG WIATRPASEQ VRAAFPLGAL
660 670 680 690 700
TQSHTGSYHC HSWEEMAVSE PSEALELVGT DILPKPVISA SPTIRGQELQ
710 720 730 740 750
LRCKGWLAGM GFALYKEGEQ EPVQQLGAVG REAFFTIQRM EDKDEGNYSC
760 770 780 790 800
RTHTEKRPFK WSEPSEPLEL VIKEMYPKPF FKTWASPVVT PGARVTFNCS
810 820 830 840 850
TPHQHMSFIL YKDGSEIASS DRSWASPGAS AAHFLIISVG IGDGGNYSCR
860 870 880 890 900
YYDFSIWSEP SDPVELVVTE FYPKPTLLAQ PGPVVFPGKS VILRCQGTFQ
910 920 930 940 950
GMRFALLQEG AHVPLQFRSV SGNSADFLLH TVGAEDSGNY SCIYYETTMS
960 970 980 990 1000
NRGSYLSMPL MIWVTDTFPK PWLFAEPSSV VPMGQNVTLW CRGPVHGVGY
1010 1020 1030 1040 1050
ILHKEGEATS MQLWGSTSND GAFPITNISG TSMGRYSCCY HPDWTSSIKI
1060 1070 1080 1090 1100
QPSNTLELLV TGLLPKPSLL AQPGPMVAPG ENMTLQCQGE LPDSTFVLLK
1110 1120 1130 1140 1150
EGAQEPLEQQ RPSGYRADFW MPAVRGEDSG IYSCVYYLDS TPFAASNHSD
1160 1170 1180 1190 1200
SLEIWVTDKP PKPSLSAWPS TMFKLGKDIT LQCRGPLPGV EFVLEHDGEE
1210 1220 1230 1240 1250
APQQFSEDGD FVINNVEGKG IGNYSCSYRL QAYPDIWSEP SDPLELVGAA
1260 1270 1280 1290 1300
GPVAQECTVG NIVRSSLIVV VVVALGVVLA IEWKKWPRLR TRGSETDGRD
1310 1320 1330
QTIALEECNQ EGEPGTPANS PSSTSQRISV ELPVPI
Length:1,336
Mass (Da):148,936
Last modified:April 14, 2009 - 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:i7D0D2C36FD1CE8B8
GO
Isoform 2 (identifier: Q8N6C5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     24-33: RMSLGMTSIV → L

Show »
Length:1,327
Mass (Da):147,973
Checksum:i736C689FEC94D2E1
GO
Isoform 3 (identifier: Q8N6C5-3) [UniParc]FASTAAdd to basket
Also known as: InhBP-S, short

The sequence of this isoform differs from the canonical sequence as follows:
     224-242: LYPKPTLTAHPGPIMAPGE → GCGYGCWHLAIVVPGIMAG
     243-1336: Missing.

Show »
Length:242
Mass (Da):27,206
Checksum:i1F8A2B1484A754EB
GO
Isoform 4 (identifier: Q8N6C5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     572-572: C → CAISFA

Show »
Length:1,341
Mass (Da):149,425
Checksum:iB5F40F68B3746CE5
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A494C0K8A0A494C0K8_HUMAN
Immunoglobulin superfamily member 1
IGSF1
1,240Annotation 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>
A0A494C0W8A0A494C0W8_HUMAN
Immunoglobulin superfamily member 1
IGSF1
182Annotation 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>
A0A494C0H8A0A494C0H8_HUMAN
Immunoglobulin superfamily member 1
IGSF1
279Annotation 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>
A0A494C0E7A0A494C0E7_HUMAN
Immunoglobulin superfamily member 1
IGSF1
53Annotation 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>

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 conflicti397T → A in AK226008 (Ref. 5) Curated1
Sequence conflicti462K → R in CAA71535 (PubMed:9729118).Curated1
Sequence conflicti494I → M in CAA71535 (PubMed:9729118).Curated1
Sequence conflicti757R → L in CAA71535 (PubMed:9729118).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_054960381N → H. Corresponds to variant dbSNP:rs6637826EnsemblClinVar.1
Natural variantiVAR_069268708 – 716Missing in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication9
Natural variantiVAR_069269765S → N in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication1
Natural variantiVAR_076256774E → G1 Publication1
Natural variantiVAR_069270858S → F in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs397514622EnsemblClinVar.1
Natural variantiVAR_069271942C → R in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication1

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_03119524 – 33RMSLGMTSIV → L in isoform 2. 2 Publications10
Alternative sequenceiVSP_031196224 – 242LYPKP…MAPGE → GCGYGCWHLAIVVPGIMAG in isoform 3. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_031197243 – 1336Missing in isoform 3. 1 PublicationAdd BLAST1094
Alternative sequenceiVSP_044554572C → CAISFA in isoform 4. 1 Publication1

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
Y10523 mRNA Translation: CAA71535.1
AF034198 mRNA Translation: AAC52057.1
AB058894 mRNA Translation: BAB40235.1
AB002362 mRNA Translation: BAA20819.2
AK226008 mRNA No translation available.
AL135784 Genomic DNA No translation available.
AL590806 Genomic DNA No translation available.
AL137369 mRNA Translation: CAB70713.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS14629.1 [Q8N6C5-1]
CCDS14630.1 [Q8N6C5-3]
CCDS55490.1 [Q8N6C5-2]
CCDS55491.1 [Q8N6C5-4]

NCBI Reference Sequences

More...
RefSeqi
NP_001164432.1, NM_001170961.1 [Q8N6C5-4]
NP_001164433.1, NM_001170962.1 [Q8N6C5-2]
NP_001164434.1, NM_001170963.1 [Q8N6C5-3]
NP_001546.2, NM_001555.4 [Q8N6C5-1]
NP_991402.1, NM_205833.3 [Q8N6C5-3]
XP_011529632.1, XM_011531330.1 [Q8N6C5-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361420; ENSP00000355010; ENSG00000147255 [Q8N6C5-1]
ENST00000370900; ENSP00000359937; ENSG00000147255 [Q8N6C5-3]
ENST00000370901; ENSP00000359938; ENSG00000147255 [Q8N6C5-3]
ENST00000370903; ENSP00000359940; ENSG00000147255 [Q8N6C5-4]
ENST00000370904; ENSP00000359941; ENSG00000147255 [Q8N6C5-2]
ENST00000370910; ENSP00000359947; ENSG00000147255 [Q8N6C5-2]
ENST00000651556; ENSP00000498789; ENSG00000147255 [Q8N6C5-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
3547

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:3547

UCSC genome browser

More...
UCSCi
uc004ewd.5, human [Q8N6C5-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y10523 mRNA Translation: CAA71535.1
AF034198 mRNA Translation: AAC52057.1
AB058894 mRNA Translation: BAB40235.1
AB002362 mRNA Translation: BAA20819.2
AK226008 mRNA No translation available.
AL135784 Genomic DNA No translation available.
AL590806 Genomic DNA No translation available.
AL137369 mRNA Translation: CAB70713.1
CCDSiCCDS14629.1 [Q8N6C5-1]
CCDS14630.1 [Q8N6C5-3]
CCDS55490.1 [Q8N6C5-2]
CCDS55491.1 [Q8N6C5-4]
RefSeqiNP_001164432.1, NM_001170961.1 [Q8N6C5-4]
NP_001164433.1, NM_001170962.1 [Q8N6C5-2]
NP_001164434.1, NM_001170963.1 [Q8N6C5-3]
NP_001546.2, NM_001555.4 [Q8N6C5-1]
NP_991402.1, NM_205833.3 [Q8N6C5-3]
XP_011529632.1, XM_011531330.1 [Q8N6C5-4]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi109763, 13 interactors
IntActiQ8N6C5, 4 interactors
MINTiQ8N6C5
STRINGi9606.ENSP00000359940

PTM databases

GlyGeniQ8N6C5, 14 sites
iPTMnetiQ8N6C5
PhosphoSitePlusiQ8N6C5

Polymorphism and mutation databases

BioMutaiIGSF1
DMDMi226694182

Proteomic databases

jPOSTiQ8N6C5
MassIVEiQ8N6C5
MaxQBiQ8N6C5
PaxDbiQ8N6C5
PeptideAtlasiQ8N6C5
PRIDEiQ8N6C5
ProteomicsDBi46220
72153 [Q8N6C5-1]
72154 [Q8N6C5-2]
72155 [Q8N6C5-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
16308, 188 antibodies

The DNASU plasmid repository

More...
DNASUi
3547

Genome annotation databases

EnsembliENST00000361420; ENSP00000355010; ENSG00000147255 [Q8N6C5-1]
ENST00000370900; ENSP00000359937; ENSG00000147255 [Q8N6C5-3]
ENST00000370901; ENSP00000359938; ENSG00000147255 [Q8N6C5-3]
ENST00000370903; ENSP00000359940; ENSG00000147255 [Q8N6C5-4]
ENST00000370904; ENSP00000359941; ENSG00000147255 [Q8N6C5-2]
ENST00000370910; ENSP00000359947; ENSG00000147255 [Q8N6C5-2]
ENST00000651556; ENSP00000498789; ENSG00000147255 [Q8N6C5-1]
GeneIDi3547
KEGGihsa:3547
UCSCiuc004ewd.5, human [Q8N6C5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
3547
DisGeNETi3547
EuPathDBiHostDB:ENSG00000147255.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IGSF1
HGNCiHGNC:5948, IGSF1
HPAiENSG00000147255, Tissue enriched (pituitary)
MalaCardsiIGSF1
MIMi300137, gene
300888, phenotype
neXtProtiNX_Q8N6C5
OpenTargetsiENSG00000147255
Orphaneti329235, X-linked central congenital hypothyroidism with late-onset testicular enlargement
PharmGKBiPA29761

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502RYEX, Eukaryota
GeneTreeiENSGT00980000198504
HOGENOMiCLU_006143_0_0_1
InParanoidiQ8N6C5
OMAiVGKYKPP
OrthoDBi1327293at2759
PhylomeDBiQ8N6C5
TreeFamiTF336644

Enzyme and pathway databases

PathwayCommonsiQ8N6C5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
3547, 1 hit in 473 CRISPR screens

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

More...
ChiTaRSi
IGSF1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
IGSF1

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

More...
GenomeRNAii
3547
PharosiQ8N6C5, Tbio

Protein Ontology

More...
PROi
PR:Q8N6C5
RNActiQ8N6C5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000147255, Expressed in pituitary gland and 159 other tissues
ExpressionAtlasiQ8N6C5, baseline and differential
GenevisibleiQ8N6C5, HS

Family and domain databases

Gene3Di2.60.40.10, 12 hits
InterProiView protein in InterPro
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR013151, Immunoglobulin
PfamiView protein in Pfam
PF00047, ig, 1 hit
PF13895, Ig_2, 6 hits
SMARTiView protein in SMART
SM00409, IG, 11 hits
SM00408, IGc2, 9 hits
SUPFAMiSSF48726, SSF48726, 12 hits
PROSITEiView protein in PROSITE
PS50835, IG_LIKE, 6 hits

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 nameiIGSF1_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: Q8N6C5
Secondary accession number(s): B5MEG2
, H9KV64, O15070, Q9NTC8
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: April 14, 2009
Last modified: December 2, 2020
This is version 157 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

Reference proteome

Documents

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