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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-Experimental evidence at protein leveli

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

GO - Molecular functioni

  • coreceptor activity Source: Ensembl
  • inhibin binding Source: UniProtKB
  • receptor activity Source: UniProtKB

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB
  • signal transduction Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Protein family/group databases

MEROPSiI43.951.

Names & Taxonomyi

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
Gene namesi
Name:IGSF1
Synonyms:IGDC1, KIAA0364, PGSF2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:5948. IGSF1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini29 – 518490ExtracellularSequence analysisAdd
BLAST
Transmembranei519 – 53921HelicalSequence analysisAdd
BLAST
Topological domaini540 – 55920CytoplasmicSequence analysisAdd
BLAST
Transmembranei560 – 58021HelicalSequence analysisAdd
BLAST
Topological domaini581 – 1336756ExtracellularSequence analysisAdd
BLAST

GO - Cellular componenti

  • extracellular region Source: UniProtKB-SubCell
  • integral component of membrane Source: UniProtKB-KW
  • membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane, Secreted

Pathology & Biotechi

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.
See also OMIM:300888
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti708 – 7169Missing in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication
VAR_069268
Natural varianti765 – 7651S → N in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication
VAR_069269
Natural varianti858 – 8581S → F in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication
VAR_069270
Natural varianti942 – 9421C → R in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication
VAR_069271

Keywords - Diseasei

Congenital hypothyroidism, Disease mutation

Organism-specific databases

MalaCardsiIGSF1.
MIMi300888. phenotype.
Orphaneti329235. X-linked central congenital hypothyroidism with late-onset testicular enlargement.
PharmGKBiPA29761.

Polymorphism and mutation databases

BioMutaiIGSF1.
DMDMi226694182.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2828Sequence analysisAdd
BLAST
Chaini29 – 13361308Immunoglobulin superfamily member 1PRO_0000318512Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi53 – 531N-linked (GlcNAc...)Sequence analysis
Disulfide bondi58 ↔ 106PROSITE-ProRule annotation
Disulfide bondi248 ↔ 296PROSITE-ProRule annotation
Glycosylationi338 – 3381N-linked (GlcNAc...)Sequence analysis
Disulfide bondi343 ↔ 392PROSITE-ProRule annotation
Glycosylationi374 – 3741N-linked (GlcNAc...)Sequence analysis
Glycosylationi381 – 3811N-linked (GlcNAc...)Sequence analysis
Disulfide bondi441 ↔ 484PROSITE-ProRule annotation
Glycosylationi607 – 6071N-linked (GlcNAc...)Sequence analysis
Disulfide bondi703 ↔ 750PROSITE-ProRule annotation
Glycosylationi747 – 7471N-linked (GlcNAc...)Sequence analysis
Glycosylationi798 – 7981N-linked (GlcNAc...)Sequence analysis
Disulfide bondi799 ↔ 849PROSITE-ProRule annotation
Glycosylationi846 – 8461N-linked (GlcNAc...)Sequence analysis
Disulfide bondi895 ↔ 942PROSITE-ProRule annotation
Glycosylationi939 – 9391N-linked (GlcNAc...)Sequence analysis
Glycosylationi986 – 9861N-linked (GlcNAc...)Sequence analysis
Glycosylationi1027 – 10271N-linked (GlcNAc...)Sequence analysis
Glycosylationi1082 – 10821N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1087 ↔ 1134PROSITE-ProRule annotation
Glycosylationi1147 – 11471N-linked (GlcNAc...)Sequence analysis
Disulfide bondi1183 ↔ 1226PROSITE-ProRule annotation
Glycosylationi1223 – 12231N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MaxQBiQ8N6C5.
PaxDbiQ8N6C5.
PRIDEiQ8N6C5.

PTM databases

PhosphoSiteiQ8N6C5.

Expressioni

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

Developmental stagei

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

Gene expression databases

BgeeiQ8N6C5.
CleanExiHS_IGSF1.
GenevisibleiQ8N6C5. HS.

Organism-specific databases

HPAiHPA035582.

Interactioni

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

  • inhibin binding Source: UniProtKB

Protein-protein interaction databases

BioGridi109763. 13 interactions.
IntActiQ8N6C5. 2 interactions.
STRINGi9606.ENSP00000359940.

Structurei

3D structure databases

ProteinModelPortaliQ8N6C5.
SMRiQ8N6C5. Positions 53-505, 590-1247.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini38 – 12285Ig-like C2-type 1Add
BLAST
Domaini137 – 22286Ig-like C2-type 2Add
BLAST
Domaini226 – 31287Ig-like C2-type 3Add
BLAST
Domaini321 – 40888Ig-like C2-type 4Add
BLAST
Domaini419 – 50082Ig-like C2-type 5Add
BLAST
Domaini589 – 67789Ig-like C2-type 6Add
BLAST
Domaini686 – 76075Ig-like C2-type 7Add
BLAST
Domaini777 – 86993Ig-like C2-type 8Add
BLAST
Domaini873 – 95886Ig-like C2-type 9Add
BLAST
Domaini965 – 106096Ig-like C2-type 10Add
BLAST
Domaini1065 – 115086Ig-like C2-type 11Add
BLAST
Domaini1161 – 124282Ig-like C2-type 12Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIFF. Eukaryota.
ENOG410YSQG. LUCA.
GeneTreeiENSGT00760000119033.
HOGENOMiHOG000113017.
InParanoidiQ8N6C5.
OMAiPWENITL.
OrthoDBiEOG78SQGZ.
PhylomeDBiQ8N6C5.
TreeFamiTF336644.

Family and domain databases

Gene3Di2.60.40.10. 12 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF13895. Ig_2. 8 hits.
[Graphical view]
SMARTiSM00409. IG. 11 hits.
SM00408. IGc2. 9 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 12 hits.
PROSITEiPS50835. IG_LIKE. 6 hits.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q8N6C5-1) [UniParc]FASTAAdd to basket

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.

« 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
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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti397 – 3971T → A in AK226008 (Ref. 5) Curated
Sequence conflicti462 – 4621K → R in CAA71535 (PubMed:9729118).Curated
Sequence conflicti494 – 4941I → M in CAA71535 (PubMed:9729118).Curated
Sequence conflicti757 – 7571R → L in CAA71535 (PubMed:9729118).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti381 – 3811N → H.
Corresponds to variant rs6637826 [ dbSNP | Ensembl ].
VAR_054960
Natural varianti708 – 7169Missing in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication
VAR_069268
Natural varianti765 – 7651S → N in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication
VAR_069269
Natural varianti858 – 8581S → F in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication
VAR_069270
Natural varianti942 – 9421C → R in CHTE; impairs IGSF1 trafficking to the plasma membrane. 1 Publication
VAR_069271

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei24 – 3310RMSLGMTSIV → L in isoform 2. 2 PublicationsVSP_031195
Alternative sequencei224 – 24219LYPKP…MAPGE → GCGYGCWHLAIVVPGIMAG in isoform 3. 1 PublicationVSP_031196Add
BLAST
Alternative sequencei243 – 13361094Missing in isoform 3. 1 PublicationVSP_031197Add
BLAST
Alternative sequencei572 – 5721C → CAISFA in isoform 4. 1 PublicationVSP_044554

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]
XP_011529633.1. XM_011531331.1. [Q8N6C5-4]
UniGeneiHs.22111.

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]
GeneIDi3547.
KEGGihsa:3547.
UCSCiuc004ewd.5. human. [Q8N6C5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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]
XP_011529633.1. XM_011531331.1. [Q8N6C5-4]
UniGeneiHs.22111.

3D structure databases

ProteinModelPortaliQ8N6C5.
SMRiQ8N6C5. Positions 53-505, 590-1247.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109763. 13 interactions.
IntActiQ8N6C5. 2 interactions.
STRINGi9606.ENSP00000359940.

Protein family/group databases

MEROPSiI43.951.

PTM databases

PhosphoSiteiQ8N6C5.

Polymorphism and mutation databases

BioMutaiIGSF1.
DMDMi226694182.

Proteomic databases

MaxQBiQ8N6C5.
PaxDbiQ8N6C5.
PRIDEiQ8N6C5.

Protocols and materials databases

DNASUi3547.
Structural Biology KnowledgebaseSearch...

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]
GeneIDi3547.
KEGGihsa:3547.
UCSCiuc004ewd.5. human. [Q8N6C5-1]

Organism-specific databases

CTDi3547.
GeneCardsiIGSF1.
HGNCiHGNC:5948. IGSF1.
HPAiHPA035582.
MalaCardsiIGSF1.
MIMi300137. gene.
300888. phenotype.
neXtProtiNX_Q8N6C5.
Orphaneti329235. X-linked central congenital hypothyroidism with late-onset testicular enlargement.
PharmGKBiPA29761.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIFF. Eukaryota.
ENOG410YSQG. LUCA.
GeneTreeiENSGT00760000119033.
HOGENOMiHOG000113017.
InParanoidiQ8N6C5.
OMAiPWENITL.
OrthoDBiEOG78SQGZ.
PhylomeDBiQ8N6C5.
TreeFamiTF336644.

Miscellaneous databases

ChiTaRSiIGSF1. human.
GeneWikiiIGSF1.
GenomeRNAii3547.
NextBioi13848.
PROiQ8N6C5.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N6C5.
CleanExiHS_IGSF1.
GenevisibleiQ8N6C5. HS.

Family and domain databases

Gene3Di2.60.40.10. 12 hits.
InterProiIPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
[Graphical view]
PfamiPF13895. Ig_2. 8 hits.
[Graphical view]
SMARTiSM00409. IG. 11 hits.
SM00408. IGc2. 9 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 12 hits.
PROSITEiPS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  5. Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
    Submitted (JUL-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Liver.
  6. "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.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1153-1336.
    Tissue: Testis.
  8. "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] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH ACVR1B; ACVR2A; ACVR2B; ACVRL1 AND BMPR1B.
  9. "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] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH HECTD1.
  10. "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] [Europe PMC] [Abstract]
    Cited for: NEGATIVE INTERACTION WITH INHA.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  12. Cited for: DEVELOPMENTAL STAGE, TISSUE SPECIFICITY, VARIANTS CHTE 708-ALA--LYS-716 DEL; ASN-765; PHE-858 AND ARG-942, CHARACTERIZATION OF 708-ALA--LYS-716 DEL; ASN-765; PHE-858 AND ARG-942.

Entry informationi

Entry nameiIGSF1_HUMAN
AccessioniPrimary (citable) accession number: Q8N6C5
Secondary accession number(s): B5MEG2
, H9KV64, O15070, Q9NTC8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: April 14, 2009
Last modified: May 11, 2016
This is version 123 of the entry and version 3 of the sequence. [Complete history]
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.

Miscellaneousi

Caution

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.