Details for: IGSF1

Gene ID: 3547

Symbol: IGSF1

Ensembl ID: ENSG00000147255

Description: immunoglobulin superfamily member 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1163
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.43
    Marker Score: 2201
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 1.37
    Marker Score: 4496
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.36
    Marker Score: 864
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4800
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 791
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71811
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48036
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.95
    Marker Score: 1974
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5349
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 371
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.92
    Marker Score: 624.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 323
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.9
    Marker Score: 612
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.88
    Marker Score: 1783
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.85
    Marker Score: 354
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.83
    Marker Score: 634
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.81
    Marker Score: 1530
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.77
    Marker Score: 5136
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 394
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 694
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.74
    Marker Score: 342
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.68
    Marker Score: 408
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.62
    Marker Score: 181
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.62
    Marker Score: 9627
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.61
    Marker Score: 316
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.56
    Marker Score: 358
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 148
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.49
    Marker Score: 1411
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.47
    Marker Score: 213
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.47
    Marker Score: 28958
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.44
    Marker Score: 1039
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.43
    Marker Score: 227
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.43
    Marker Score: 181.5
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.41
    Marker Score: 271
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.4
    Marker Score: 347
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.37
    Marker Score: 359
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.37
    Marker Score: 176
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 369
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.36
    Marker Score: 357
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.36
    Marker Score: 159
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.35
    Marker Score: 116
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.34
    Marker Score: 282
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.33
    Marker Score: 100
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.33
    Marker Score: 412
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.33
    Marker Score: 106
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.32
    Marker Score: 84
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.31
    Marker Score: 181
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.3
    Marker Score: 95
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.3
    Marker Score: 77
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.28
    Marker Score: 188
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.27
    Marker Score: 1617
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.26
    Marker Score: 84
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.26
    Marker Score: 90
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.25
    Marker Score: 358.5
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.25
    Marker Score: 164
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.25
    Marker Score: 100
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.24
    Marker Score: 72
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.23
    Marker Score: 129
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 139
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.23
    Marker Score: 400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.22
    Marker Score: 136
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.22
    Marker Score: 117
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.22
    Marker Score: 242
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.22
    Marker Score: 94
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.21
    Marker Score: 213
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.21
    Marker Score: 51
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.2
    Marker Score: 722
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.2
    Marker Score: 97
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.19
    Marker Score: 39
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.19
    Marker Score: 66
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.19
    Marker Score: 129
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.19
    Marker Score: 59
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.19
    Marker Score: 65
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.18
    Marker Score: 107
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.18
    Marker Score: 44
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.17
    Marker Score: 123
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.17
    Marker Score: 40
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.17
    Marker Score: 166
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.17
    Marker Score: 294
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.17
    Marker Score: 38
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 0.17
    Marker Score: 37
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.16
    Marker Score: 627
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.16
    Marker Score: 40
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.16
    Marker Score: 40
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.16
    Marker Score: 108
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.16
    Marker Score: 39
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 0.16
    Marker Score: 39

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Other Information

**Key characteristics:** * The IGSF1 gene is located on chromosome 12q21.1. * The protein is a type I transmembrane protein with a molecular weight of approximately 150 kDa. * The protein is a member of the immunoglobulin superfamily, which is a large family of cell surface receptors. * The IGSF1 protein is expressed in a variety of cell types, including epithelial cells, immune cells, and neuronal cells. **Pathways and functions:** * The IGSF1 protein is a negative regulator of the activin receptor signaling pathway. * The protein binds to the inhibin protein, which is a negative regulator of the activin receptor. * When IGSF1 binds to inhibin, it blocks the action of activin, which is a growth factor for epithelial cells. * This leads to the inhibition of epithelial cell growth and the promotion of cell cycle arrest. **Clinical significance:** * Mutations in the IGSF1 gene have been linked to a number of human diseases, including colon cancer, breast cancer, and lung cancer. * In one study, mutations in the IGSF1 gene were found in 30% of tumors from patients with colon cancer. * These mutations were associated with poor prognosis and resistance to chemotherapy. * The development of antibodies against the IGSF1 protein is a promising area of research for the treatment of cancer.

Genular Protein ID: 2850782811

Symbol: IGSF1_HUMAN

Name: Immunoglobulin superfamily member 1

UniProtKB Accession Codes:

Q8N6C5 B5MEG2 H9KV64 O15070 Q9NTC8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 EPD 1 Ensembl 7 ExpressionAtlas 1 GO 6 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 RefSeq 6 SAM 1 SMART 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9729118

Title: Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25.

PubMed ID: 9729118

DOI: 10.1016/s0378-1119(98)00253-4

PubMed ID: 9521868

Title: Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25.

PubMed ID: 9521868

DOI: 10.1006/geno.1997.5156

PubMed ID: 11854097

Title: Expression profile of active genes in the human pituitary gland.

PubMed ID: 11854097

DOI: 10.1677/jme.0.0280033

PubMed ID: 9205841

Title: 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.

PubMed ID: 9205841

DOI: 10.1093/dnares/4.2.141

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 11266516

Title: Modulation of activin signal transduction by inhibin B and inhibin-binding protein (INhBP).

PubMed ID: 11266516

DOI: 10.1210/mend.15.4.0616

PubMed ID: 12421765

Title: Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.

PubMed ID: 12421765

DOI: 10.1101/gr.406902

PubMed ID: 12385827

Title: Properties of inhibin binding to betaglycan, InhBP/p120 and the activin type II receptors.

PubMed ID: 12385827

DOI: 10.1016/s0303-7207(02)00227-7

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23143598

Title: Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

PubMed ID: 23143598

DOI: 10.1038/ng.2453

PubMed ID: 23092983

Title: Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

PubMed ID: 23092983

DOI: 10.1038/tp.2012.102

Sequence Information:

  • Length: 1336
  • Mass: 148936
  • Checksum: 7D0D2C36FD1CE8B8
  • Sequence:
    • MTLDRPGEGA TMLKTFTVLL FCIRMSLGMT SIVMDPQPEL WIESNYPQAP WENITLWCRS 
PSRISSKFLL LKDKTQMTWI RPSHKTFQVS FLIGALTESN AGLYRCCYWK ETGWSKPSKV 
LELEAPGQLP KPIFWIQAET PALPGCNVNI LCHGWLQDLV FMLFKEGYAE PVDYQVPTGT 
MAIFSIDNLT PEDEGVYICR THIQMLPTLW SEPSNPLKLV VAGLYPKPTL TAHPGPIMAP 
GESLNLRCQG PIYGMTFALM RVEDLEKSFY HKKTIKNEAN FFFQSLKIQD TGHYLCFYYD 
ASYRGSLLSD VLKIWVTDTF PKTWLLARPS AVVQMGQNVS LRCRGPVDGV GLALYKKGED 
KPLQFLDATS IDDNTSFFLN NVTYSDTGIY SCHYLLTWKT SIRMPSHNTV ELMVVDKPPK 
PSLSAWPSTV FKLGKAITLQ CRVSHPVLEF SLEWEERETF QKFSVNGDFI ISNVDGKGTG 
TYSCSYRVET HPNIWSHRSE PLKLMGPAGY LTWNYVLNEA IRLSLIMQLV ALLLVVLWIR 
WKCRRLRIRE AWLLGTAQGV TMLFIVTALL CCGLCNGVLI EETEIVMPTP KPELWAETNF 
PLAPWKNLTL WCRSPSGSTK EFVLLKDGTG WIATRPASEQ VRAAFPLGAL TQSHTGSYHC 
HSWEEMAVSE PSEALELVGT DILPKPVISA SPTIRGQELQ LRCKGWLAGM GFALYKEGEQ 
EPVQQLGAVG REAFFTIQRM EDKDEGNYSC RTHTEKRPFK WSEPSEPLEL VIKEMYPKPF 
FKTWASPVVT PGARVTFNCS TPHQHMSFIL YKDGSEIASS DRSWASPGAS AAHFLIISVG 
IGDGGNYSCR YYDFSIWSEP SDPVELVVTE FYPKPTLLAQ PGPVVFPGKS VILRCQGTFQ 
GMRFALLQEG AHVPLQFRSV SGNSADFLLH TVGAEDSGNY SCIYYETTMS NRGSYLSMPL 
MIWVTDTFPK PWLFAEPSSV VPMGQNVTLW CRGPVHGVGY ILHKEGEATS MQLWGSTSND 
GAFPITNISG TSMGRYSCCY HPDWTSSIKI QPSNTLELLV TGLLPKPSLL AQPGPMVAPG 
ENMTLQCQGE LPDSTFVLLK EGAQEPLEQQ RPSGYRADFW MPAVRGEDSG IYSCVYYLDS 
TPFAASNHSD SLEIWVTDKP PKPSLSAWPS TMFKLGKDIT LQCRGPLPGV EFVLEHDGEE 
APQQFSEDGD FVINNVEGKG IGNYSCSYRL QAYPDIWSEP SDPLELVGAA GPVAQECTVG 
NIVRSSLIVV VVVALGVVLA IEWKKWPRLR TRGSETDGRD QTIALEECNQ EGEPGTPANS 
PSSTSQRISV ELPVPI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.