Q8N6C5 (IGSF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 81.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | 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 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1336 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | 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. Ref.7 |
| Subunit structure | Interacts with INHA By similarity. In Ref.9 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. Ref.7 Ref.8 Ref.9 |
| Subcellular location | Isoform 1: Membrane; Multi-pass membrane protein Potential. Isoform 2: Membrane; Multi-pass membrane protein Potential. |
| Tissue specificity | 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. Ref.2 Ref.3 |
| Sequence similarities | Contains 12 Ig-like C2-type (immunoglobulin-like) domains. |
| Caution | It is uncertain whether Met-1 or Met-12 is the initiator. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Immunoglobulin domain Repeat Signal Transmembrane Transmembrane helix |
| Molecular function | Receptor |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription, DNA-dependent Inferred from direct assay Ref.7. Source: UniProtKB signal transductionInferred from direct assay Ref.7. Source: UniProtKB |
| Cellular component | extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell integral to membraneInferred from electronic annotation. Source: UniProtKB-KW |
| Molecular function | inhibin beta-A binding Inferred from direct assay Ref.7. Source: UniProtKB inhibin beta-B bindingInferred from direct assay Ref.7. Source: UniProtKB receptor activityInferred from direct assay Ref.7. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: Q8N6C5-1) Also known as: InhBP-L; long; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q8N6C5-2) The sequence of this isoform differs from the canonical sequence as follows: 24-33: RMSLGMTSIV → L | ||||||
| Isoform 3 (identifier: Q8N6C5-3) 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. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 28 | 28 | Potential | ||||||||
| Chain | 29 – 1336 | 1308 | Immunoglobulin superfamily member 1 | PRO_0000318512 | |||||||
Regions | |||||||||||
| Topological domain | 29 – 518 | 490 | Extracellular Potential | ||||||||
| Transmembrane | 519 – 539 | 21 | Helical; Potential | ||||||||
| Topological domain | 540 – 559 | 20 | Cytoplasmic Potential | ||||||||
| Transmembrane | 560 – 580 | 21 | Helical; Potential | ||||||||
| Topological domain | 581 – 1336 | 756 | Extracellular Potential | ||||||||
| Domain | 38 – 122 | 85 | Ig-like C2-type 1 | ||||||||
| Domain | 137 – 222 | 86 | Ig-like C2-type 2 | ||||||||
| Domain | 226 – 312 | 87 | Ig-like C2-type 3 | ||||||||
| Domain | 321 – 408 | 88 | Ig-like C2-type 4 | ||||||||
| Domain | 419 – 500 | 82 | Ig-like C2-type 5 | ||||||||
| Domain | 589 – 677 | 89 | Ig-like C2-type 6 | ||||||||
| Domain | 686 – 760 | 75 | Ig-like C2-type 7 | ||||||||
| Domain | 777 – 869 | 93 | Ig-like C2-type 8 | ||||||||
| Domain | 873 – 958 | 86 | Ig-like C2-type 9 | ||||||||
| Domain | 965 – 1060 | 96 | Ig-like C2-type 10 | ||||||||
| Domain | 1065 – 1150 | 86 | Ig-like C2-type 11 | ||||||||
| Domain | 1161 – 1242 | 82 | Ig-like C2-type 12 | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 53 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 338 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 374 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 381 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 607 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 747 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 798 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 846 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 939 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 986 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1027 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1082 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1147 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1223 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 58 ↔ 106 | By similarity | |||||||||
| Disulfide bond | 248 ↔ 296 | By similarity | |||||||||
| Disulfide bond | 343 ↔ 392 | By similarity | |||||||||
| Disulfide bond | 441 ↔ 484 | By similarity | |||||||||
| Disulfide bond | 703 ↔ 750 | By similarity | |||||||||
| Disulfide bond | 799 ↔ 849 | By similarity | |||||||||
| Disulfide bond | 895 ↔ 942 | By similarity | |||||||||
| Disulfide bond | 1087 ↔ 1134 | By similarity | |||||||||
| Disulfide bond | 1183 ↔ 1226 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 24 – 33 | 10 | RMSLGMTSIV → L in isoform 2. | VSP_031195 | |||||||
| Alternative sequence | 224 – 242 | 19 | LYPKP…MAPGE → GCGYGCWHLAIVVPGIMAG in isoform 3. | VSP_031196 | |||||||
| Alternative sequence | 243 – 1336 | 1094 | Missing in isoform 3. | VSP_031197 | |||||||
| Natural variant | 381 | 1 | N → H. Corresponds to variant rs6637826 [ dbSNP | Ensembl ]. | VAR_054960 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 462 | 1 | K → R in CAA71535. Ref.1 | ||||||||
| Sequence conflict | 494 | 1 | I → M in CAA71535. Ref.1 | ||||||||
| Sequence conflict | 757 | 1 | R → L in CAA71535. Ref.1 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25." Frattini A., Faranda S., Redolfi E., Allavena P., Vezzoni P. Gene 214:1-6(1998) [PubMed: 9729118] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). |
| [2] | "Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25." Mazzarella R., Pengue G., Jones J., Jones C., Schlessinger D. Genomics 48:157-162(1998) [PubMed: 9521868] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY. |
| [3] | "Expression profile of active genes in the human pituitary gland." Tanaka S., Tatsumi K., Okubo K., Itoh K., Kawamoto S., Matsubara K., Amino N. J. Mol. Endocrinol. 28:33-44(2002) [PubMed: 11854097] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY. Tissue: Pituitary. |
| [4] | "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 4:141-150(1997) [PubMed: 9205841] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain. |
| [5] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1153-1336. Tissue: Testis. |
| [7] | "Modulation of activin signal transduction by inhibin B and inhibin-binding protein (INhBP)." Chapman S.C., Woodruff T.K. Mol. Endocrinol. 15:668-679(2001) [PubMed: 11266516] [Abstract] Cited for: FUNCTION, INTERACTION WITH ACVR1B; ACVR2A; ACVR2B; ACVRL1 AND BMPR1B. |
| [8] | "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs." Nakayama M., Kikuno R., Ohara O. Genome Res. 12:1773-1784(2002) [PubMed: 12421765] [Abstract] Cited for: INTERACTION WITH HECTD1. |
| [9] | "Properties of inhibin binding to betaglycan, InhBP/p120 and the activin type II receptors." Chapman S.C., Bernard D.J., Jelen J., Woodruff T.K. Mol. Cell. Endocrinol. 196:79-93(2002) [PubMed: 12385827] [Abstract] Cited for: NEGATIVE INTERACTION WITH INHA. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | Y10523 mRNA. Translation: CAA71535.1. AF034198 mRNA. Translation: AAC52057.1. AB058894 mRNA. Translation: BAB40235.1. AB002362 mRNA. Translation: BAA20819.2. AL590806 Genomic DNA. No translation available. AL137369 mRNA. Translation: CAB70713.1. |
| IPI | IPI00043215. IPI00166985. IPI00515081. |
| RefSeq | NP_001164433.1. NM_001170962.1. NP_001164434.1. NM_001170963.1. NP_001546.2. NM_001555.4. NP_991402.1. NM_205833.3. |
| UniGene | Hs.22111. |
3D structure databases | |
| HSSP | HSSP built from PDB template 1OVZ based on UniProtKB P24071. |
| ProteinModelPortal | Q8N6C5. |
| SMR | Q8N6C5. Positions 36-1319. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q8N6C5. 2 interactions. |
| STRING | Q8N6C5. |
PTM databases | |
| PhosphoSite | Q8N6C5. |
Polymorphism databases | |
| DMDM | 226694182. |
Proteomic databases | |
| PRIDE | Q8N6C5. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000361420; ENSP00000355010; ENSG00000147255. |
| GeneID | 3547. |
| KEGG | hsa:3547. |
| UCSC | uc004ewd.1. human. uc004ewf.1. human. uc004ewg.1. human. |
Organism-specific databases | |
| CTD | 3547. |
| GeneCards | GC0XM130407. |
| H-InvDB | HIX0017051. |
| HGNC | HGNC:5948. IGSF1. |
| MIM | 300137. gene. |
| neXtProt | NX_Q8N6C5. |
| PharmGKB | PA29761. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG07894. |
| GeneTree | ENSGT00570000078816. |
| HOGENOM | HBG507240. |
| OMA | CSYRLQA. |
Gene expression databases | |
| ArrayExpress | Q8N6C5. |
| Bgee | Q8N6C5. |
| CleanEx | HS_IGSF1. |
| Genevestigator | Q8N6C5. |
Family and domain databases | |
| InterPro | IPR007110. Ig-like. IPR013783. Ig-like_fold. IPR003599. Ig_sub. IPR003598. Ig_sub2. IPR013151. Immunoglobulin. [Graphical view] |
| Gene3D | G3DSA:2.60.40.10. Ig-like_fold. 12 hits. |
| Pfam | PF00047. ig. 1 hit. [Graphical view] |
| SMART | SM00409. IG. 6 hits. SM00408. IGc2. 1 hit. [Graphical view] |
| PROSITE | PS50835. IG_LIKE. 6 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 13848. |
| SOURCE | Search... |
Entry information
| Entry name | IGSF1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8N6C5 Secondary accession number(s): B5MEG2, O15070, Q9NTC8 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome X Human chromosome X: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with