Details for: IGSF1

Gene ID: 3547

Symbol: IGSF1

Ensembl ID: ENSG00000147255

Description: immunoglobulin superfamily member 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 10.7176
    Cell Significance Index: -5.0600
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 5.7345
    Cell Significance Index: 96.4500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 5.1427
    Cell Significance Index: -4.9100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.5087
    Cell Significance Index: 41.3400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.8189
    Cell Significance Index: 39.4100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.7737
    Cell Significance Index: 56.8100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.1178
    Cell Significance Index: 68.5300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.7694
    Cell Significance Index: 20.6200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.7047
    Cell Significance Index: 82.1300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4921
    Cell Significance Index: 93.6600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4281
    Cell Significance Index: 84.9600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.3345
    Cell Significance Index: 20.0800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.2655
    Cell Significance Index: 5.6600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.2198
    Cell Significance Index: 2.3900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2167
    Cell Significance Index: 23.5700
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 0.1950
    Cell Significance Index: 1.2000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1900
    Cell Significance Index: 18.8000
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.1800
    Cell Significance Index: 1.2300
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 0.1653
    Cell Significance Index: 1.1200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1587
    Cell Significance Index: 143.2700
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.1423
    Cell Significance Index: 0.8600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1319
    Cell Significance Index: 8.8700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.1315
    Cell Significance Index: 1.0500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1104
    Cell Significance Index: 17.9600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1101
    Cell Significance Index: 5.7200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0922
    Cell Significance Index: 2.3700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0864
    Cell Significance Index: 5.9800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0785
    Cell Significance Index: 5.8500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0724
    Cell Significance Index: 1.2400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0421
    Cell Significance Index: 1.4800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0410
    Cell Significance Index: 1.1800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0325
    Cell Significance Index: 2.0000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0300
    Cell Significance Index: 3.4200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0195
    Cell Significance Index: 0.1500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0124
    Cell Significance Index: 8.5500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0071
    Cell Significance Index: 9.6000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0052
    Cell Significance Index: 0.1300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0045
    Cell Significance Index: 0.9000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0045
    Cell Significance Index: 1.9800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0044
    Cell Significance Index: 1.5700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.0038
    Cell Significance Index: 0.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0035
    Cell Significance Index: 5.4100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0028
    Cell Significance Index: 5.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0027
    Cell Significance Index: 5.1300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0019
    Cell Significance Index: -0.3200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0019
    Cell Significance Index: -1.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0020
    Cell Significance Index: -1.5000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0023
    Cell Significance Index: -1.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0024
    Cell Significance Index: -0.4400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0042
    Cell Significance Index: -2.7000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0064
    Cell Significance Index: -1.3500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0064
    Cell Significance Index: -4.8800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0068
    Cell Significance Index: -4.9700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0076
    Cell Significance Index: -3.4700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0082
    Cell Significance Index: -4.4900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0093
    Cell Significance Index: -1.3500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0093
    Cell Significance Index: -2.6800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0095
    Cell Significance Index: -0.4300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0115
    Cell Significance Index: -1.3200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0137
    Cell Significance Index: -1.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0150
    Cell Significance Index: -0.4200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0175
    Cell Significance Index: -0.2500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0232
    Cell Significance Index: -1.7800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0236
    Cell Significance Index: -0.6300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0282
    Cell Significance Index: -3.4700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0336
    Cell Significance Index: -4.6200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0337
    Cell Significance Index: -1.2800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0339
    Cell Significance Index: -1.5000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0386
    Cell Significance Index: -4.9900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0390
    Cell Significance Index: -0.8100
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0396
    Cell Significance Index: -0.4100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0396
    Cell Significance Index: -4.1300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.0416
    Cell Significance Index: -0.7000
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0458
    Cell Significance Index: -1.1100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0474
    Cell Significance Index: -5.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0477
    Cell Significance Index: -4.8700
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0541
    Cell Significance Index: -0.7300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0599
    Cell Significance Index: -3.7800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0675
    Cell Significance Index: -1.1300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0676
    Cell Significance Index: -5.3500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0703
    Cell Significance Index: -2.0700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0709
    Cell Significance Index: -3.9800
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0769
    Cell Significance Index: -0.9300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0796
    Cell Significance Index: -1.9100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0824
    Cell Significance Index: -3.3800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0831
    Cell Significance Index: -1.7400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0845
    Cell Significance Index: -3.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0848
    Cell Significance Index: -4.4500
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0859
    Cell Significance Index: -5.5400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0906
    Cell Significance Index: -4.5800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0939
    Cell Significance Index: -4.8900
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1029
    Cell Significance Index: -1.5500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1035
    Cell Significance Index: -4.8700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1047
    Cell Significance Index: -3.6400
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.1072
    Cell Significance Index: -1.3600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1075
    Cell Significance Index: -3.5200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1099
    Cell Significance Index: -3.8500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.1145
    Cell Significance Index: -1.6900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1153
    Cell Significance Index: -2.8800
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1190
    Cell Significance Index: -3.7900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** IGSF1 is a protein-coding gene located on chromosome 11q23.3. It encodes a transmembrane protein belonging to the immunoglobulin superfamily, which consists of cell surface receptors and ligands involved in immune responses. The IGSF1 protein is characterized by its ability to bind to various ligands, including inhibin and activin, which are key regulators of the TGF-β signaling pathway. This binding capacity enables IGSF1 to modulate the signaling activity of these ligands, thereby influencing immune cell development, differentiation, and function. **Pathways and Functions:** IGSF1 is involved in several key signaling pathways, including: 1. **Negative regulation of activin receptor signaling pathway**: IGSF1 acts as a negative regulator of the activin receptor signaling pathway, which is crucial for immune cell development, differentiation, and function. 2. **Inhibin binding**: IGSF1 binds to inhibin, a key regulator of the TGF-β signaling pathway, thereby modulating its activity. 3. **Regulation of DNA-templated transcription**: IGSF1 influences the transcriptional activity of specific DNA sequences, affecting the expression of genes involved in immune responses. **Clinical Significance:** The IGSF1 gene's involvement in immune system development and function has significant implications for understanding various diseases, including: 1. **Autoimmune disorders**: Dysregulation of the IGSF1 gene may contribute to autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis. 2. **Cancer**: Alterations in IGSF1 expression and function have been observed in various cancers, including colorectal and breast cancer. 3. **Immunodeficiency disorders**: Mutations in the IGSF1 gene may lead to immunodeficiency disorders, such as severe combined immunodeficiency (SCID). In conclusion, the IGSF1 gene plays a critical role in regulating immune system development and function. Further research is necessary to fully elucidate the gene's mechanisms of action and its clinical significance, ultimately leading to the development of targeted therapies for immune-related diseases. **Future Directions:** 1. **Investigation of IGSF1 expression patterns**: Further studies are needed to determine the expression patterns of IGSF1 in different tissues and cell types, as well as the regulation of its expression. 2. **Functional analysis of IGSF1**: The functional role of IGSF1 in immune cell development and function should be further elucidated using cell culture and animal models. 3. **Therapeutic strategies**: The development of targeted therapies aimed at modulating IGSF1 expression and function may provide novel treatment options for immune-related diseases. By shedding light on the IGSF1 gene's immunological significance and clinical implications, researchers can gain a deeper understanding of its role in immune system development and function, ultimately leading to the development of effective therapeutic strategies.

Genular Protein ID: 2850782811

Symbol: IGSF1_HUMAN

Name: Immunoglobulin superfamily member 1

UniProtKB Accession Codes:

Database IDs:

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.