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IGSF1 Gene

protein-coding   GIFtS: 62
GCID: GC0XM130407

Immunoglobulin Superfamily, Member 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Immunoglobulin Superfamily, Member 11 2     CHTE2 5
IGDC12 3 5     IGCD12
Immunoglobulin-Like Domain-Containing Protein 12 3     INHBP2
Inhibin-Binding Protein2 3     Immunoglobulin Superfamily Member 12
Pituitary Gland-Specific Factor 22 3     IgSF13
PGSF22 3     InhBP3
p1202 3     KIAA03643

External Ids:    HGNC: 59481   Entrez Gene: 35472   Ensembl: ENSG000001472557   OMIM: 3001375   UniProtKB: Q8N6C53   

Export aliases for IGSF1 gene to outside databases

Previous GC identifers: GC0XM125053 GC0XM127253 GC0XM128352 GC0XM129113 GC0XM130133 GC0XM130235 GC0XM119813


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IGSF1 Gene:
This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily
contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of
interactions between cells. Multiple transcript variants encoding different isoforms have been found for this
gene.(provided by RefSeq, Jan 2010)

GeneCards Summary for IGSF1 Gene:
IGSF1 (immunoglobulin superfamily, member 1) is a protein-coding gene. Diseases associated with IGSF1 include central hypothyroidism and testicular enlargement, and subacute sclerosing panencephalitis. GO annotations related to this gene include inhibin binding and receptor activity. An important paralog of this gene is LILRB4.

UniProtKB/Swiss-Prot: IGSF1_HUMAN, Q8N6C5
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

Gene Wiki entry for IGSF1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000023.11  NT_011786.17  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IGSF1 gene promoter:
         COUP-TF1   MyoD   COUP   HNF-4alpha2   Nkx2-5   NF-kappaB   HNF-4alpha1   MZF-1   COUP-TF   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIGSF1 promoter sequence
   Search Chromatin IP Primers for IGSF1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGSF1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq25   Ensembl cytogenetic band:  Xq26.2   HGNC cytogenetic band: Xq25

IGSF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGSF1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM130407:  view genomic region     (about GC identifiers)

Start:
130,407,480 bp from pter      End:
130,533,677 bp from pter
Size:
126,198 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IGSF1_HUMAN, Q8N6C5 (See protein sequence)
Recommended Name: Immunoglobulin superfamily member 1 precursor  
Size: 1336 amino acids; 148936 Da
Subunit: 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
Developmental stage: Expressed in embryo Carnegie stage 18 in Rathke's pouch progenitors
Caution: It is uncertain whether Met-1 or Met-12 is the initiator
Secondary accessions: B5MEG2 H9KV64 O15070 Q9NTC8
Alternative splicing: 4 isoforms:  Q8N6C5-1   Q8N6C5-2   Q8N6C5-3   Q8N6C5-4   

Explore the universe of human proteins at neXtProt for IGSF1: NX_Q8N6C5

Explore proteomics data for IGSF1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn53, Asn338, Asn374, Asn381, Asn607, Asn747, Asn798, Asn846, Asn939, Asn986,
                                 Asn1027, Asn1082, Asn1147, Asn1223
  • Modification sites at PhosphoSitePlus

  • See IGSF1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001164432.1  NP_001164433.1  NP_001164434.1  NP_001546.2  NP_991402.1  

    ENSEMBL proteins: 
     ENSP00000359947   ENSP00000355010   ENSP00000359941   ENSP00000359937   ENSP00000359938  
     ENSP00000359940  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    4 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry Q8N6C5

    ProtoNet protein and cluster: Q8N6C5

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: IGSF1_HUMAN, Q8N6C5
    Similarity: Contains 12 Ig-like C2-type (immunoglobulin-like) domains


    IGSF1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IGSF1_HUMAN, Q8N6C5
    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

         Genatlas biochemistry entry for IGSF1:
    immunoglobulin superfamily gene 1,highly expressed in adult testis and fetal liver,with a smaller alternate form
    expressed in adult heart,potentially involved in cell-surface recognition or cell-cell interaction

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity IDA11266516
    GO:0005515protein binding IPI11266516
    GO:0015026coreceptor activity IEA--
    GO:0034711inhibin binding IDA11266516
         
    IGSF1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IGSF1:
     Decreased influenza A/WSN/33 r 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Igsf1):
     normal 

    IGSF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Igsf1tm1Zuk for IGSF1

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    Block miRNA regulation of human, mouse, rat IGSF1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate IGSF1 (see all 44):
    hsa-let-7d hsa-miR-146a hsa-miR-29a hsa-miR-449a hsa-miR-3921 hsa-let-7g hsa-let-7a hsa-miR-3116
    SwitchGear 3'UTR luciferase reporter plasmidIGSF1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGSF1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IGSF1_HUMAN, Q8N6C5: Isoform 1: Membrane; Multi-pass membrane protein (Potential)
    IGSF1_HUMAN, Q8N6C5: Isoform 2: Membrane; Multi-pass membrane protein (Potential)
    IGSF1_HUMAN, Q8N6C5: Isoform 3: Secreted (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    plasma membrane3
    cytosol1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0016020membrane IDA11266516
    GO:0016021integral component of membrane IEA--

    IGSF1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IGSF1 About    
    See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Signal transduction Activin A signaling regulation0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for IGSF1
        Signal transduction Activin A signaling regulation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IGSF1
    Interactions:

        GeneGlobe Interaction Network for IGSF1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for IGSF1 (Q8N6C53 ENSP000003550104) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HECTD1Q9ULT83, ENSP000003822694I2D: score=3 STRING: ENSP00000382269
    RANBP10Q6VN203, ENSP000003165894I2D: score=3 STRING: ENSP00000316589
    IGF1P050193, ENSP000003026654I2D: score=2 STRING: ENSP00000302665
    ACVR1Q047713, ENSP000002636404I2D: score=1 STRING: ENSP00000263640
    ACVR1BP368963, ENSP000002579634I2D: score=1 STRING: ENSP00000257963
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated IDA11266516
    GO:0007165signal transduction IDA11266516

    IGSF1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IGSF1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IGSF1 gene (5 alternative transcripts): 
    NM_001170961.1  NM_001170962.1  NM_001170963.1  NM_001555.4  NM_205833.3  

    Unigene Cluster for IGSF1:

    Immunoglobulin superfamily, member 1
    Hs.22111  [show with all ESTs]
    Unigene Representative Sequence: NM_001170961
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000370910 ENST00000361420 ENST00000370904(uc004ewf.2) ENST00000467244
    ENST00000469836 ENST00000370900(uc022cdw.1) ENST00000370901(uc004ewg.3)
    ENST00000370903(uc004ewd.3 uc004ewe.4 uc022cdv.1)
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    Selected qRT-PCR Assays for microRNAs that regulate IGSF1 (see all 44):
    hsa-let-7d hsa-miR-146a hsa-miR-29a hsa-miR-449a hsa-miR-3921 hsa-let-7g hsa-let-7a hsa-miR-3116
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    Additional mRNA sequence: 

    AB058894.2 AF034198.1 AK057916.1 AK226008.1 AK295438.1 AK307871.1 AL137369.1 BC028312.1 
    BC063884.1 Y10523.1 

    7 DOTS entries:

    DT.95351575  DT.92421077  DT.215108  DT.101958623  DT.121318277  DT.95368130  DT.121318244 

    Selected AceView cDNA sequences (see all 124):

    CD108169 AW952896 BQ071925 AF034198 BM263194 AI222369 BU070763 AL079599 
    NM_001555 AA469974 AA780028 CD251252 BC063884 AI022167 CD238797 BX091522 
    R93268 CD109006 BM709390 CR614008 H52060 Y10523 H83236 BI771017 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IGSF1 (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^
    SP1:                          -     -                       -                                   -           -                                                   
    SP2:        -                                                                                                                                                   
    SP3:                                                                                                        -                                                   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19a · 19b ^ 20 ^ 21 ^ 22
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:  -                           


    ECgene alternative splicing isoforms for IGSF1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IGSF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATTCTATT
    IGSF1 Expression
    About this image


    IGSF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Neural Tube (Nervous System)
             Floor plate-like cells
    IGSF1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IGSF1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.22111

    UniProtKB/Swiss-Prot: IGSF1_HUMAN, Q8N6C5
    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IGSF1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IGSF1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Igsf11 , 5 immunoglobulin superfamily, member 11, 5 87.99(n)1
    87.46(a)1
      X (26.06 cM)5
    2092681  NM_177591.41  NP_808259.21 
     497825365 
    chicken
    (Gallus gallus)
    Aves IGSF11 immunoglobulin superfamily, member 1 44.11(n)
    31.06(a)
      419114  NM_001145226.2  NP_001138698.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    27(a)
    1 → many
    GL343329.1(1197670-1218701)


    ENSEMBL Gene Tree for IGSF1 (if available)
    TreeFam Gene Tree for IGSF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IGSF1 gene
    LILRB42  KIR2DL42  LILRB12  KIR2DS42  LILRA62  LILRA52  KIR3DL12  OSCAR2  
    NCR12  LILRA42  ENSG000002177922  TARM12  KIR3DX12  LILRA32  LILRB52  KIR3DL32  
    LILRA12  KIR3DS12  KIR2DL12  A1BG2  LILRB22  KIR3DL22  LILRA22  KIR2DL32  
    FCAR2  GP62  LILRB32  
    2 SIMAP similar genes for IGSF1 using alignment to 1 protein entry:     IGSF1_HUMAN:
    KIR2DS4    LILRA3

    IGSF1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IGSF1 (see all 411)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692714
    Hypothyroidism, central, and testicular enlargement (CHTE)4--see VAR_0692712 C R mis40--------
    VAR_0692694
    Hypothyroidism, central, and testicular enlargement (CHTE)4--see VAR_0692692 S N mis40--------
    VAR_0692704
    Hypothyroidism, central, and testicular enlargement (CHTE)4--see VAR_0692702 S F mis40--------
    rs125597721,2
    C,F,A,H--119831073(+) TCAAGA/GAAGTG 4 -- us2k115Minor allele frequency- G:0.18NS EA NA 1964
    rs2014741501,2
    C--130364237(+) CCAAA-/GTAACA 3 -- ds50010--------
    rs66378251,2
    C,F,H--130364359(+) AGTGAT/CTATGT 3 -- ds500124Minor allele frequency- C:0.49NS EA NA WA CSA 2543
    rs1409920191,2
    --130364605(+) CATGCA/GCCAGT 3 -- ut310--------
    rs1902748771,2
    C--130364648(+) GAACCA/TCTCTT 3 -- ut310--------
    rs1415979081,2
    F--130364893(+) CAGGGG/ATGCCT 6 /T /I mis11Minor allele frequency- A:0.00NA 4552
    rs1448207011,2
    C--130364922(+) CACTCG/TTCAAG 6 E D mis10--------

    HapMap Linkage Disequilibrium report for IGSF1 (130407480 - 130533677 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for IGSF1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv528179CNV Gain19592680
    nsv522699CNV Gain19592680

    Human Gene Mutation Database (HGMD): IGSF1
    Locus Specific Mutation Databases (LSDB): IGSF1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IGSF1
    DNA2.0 Custom Variant and Variant Library Synthesis for IGSF1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300137   
    OMIM disorders: 300888  
    UniProtKB/Swiss-Prot: IGSF1_HUMAN, Q8N6C5
  • Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]: A 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 8 diseases for IGSF1:    
    About MalaCards
    central hypothyroidism and testicular enlargement    subacute sclerosing panencephalitis    gaucher's disease    hypothyroidism
    pulmonary function    multiple myeloma    myeloma    prostatitis


    IGSF1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IGSF1

    Export disorders for IGSF1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IGSF1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with IGSF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25. (PubMed id 9521868)1, 2, 3 Mazzarella R.... Schlessinger D. (Genomics 1998)
    2. Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25. (PubMed id 9729118)1, 2, 3 Frattini A.... Vezzoni P. (Gene 1998)
    3. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. (PubMed id 23143598)1, 2 Sun Y.... Bernard D.J. (Nat. Genet. 2012)
    4. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PubMed id 12421765)1, 2 Nakayama M.... Ohara O. (Genome Res. 2002)
    5. Expression profile of active genes in the human pituitary gland. (PubMed id 11854097)1, 2 Tanaka S....Amino N. (J. Mol. Endocrinol. 2002)
    6. Modulation of activin signal transduction by inhibin B and inhibin- binding protein (INhBP). (PubMed id 11266516)1, 2 Chapman S.C. and Woodruff T.K. (Mol. Endocrinol. 2001)
    7. 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)1, 2 Nagase T.... Ohara O. (DNA Res. 1997)
    8. Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism. (PubMed id 23966245)1 Nakamura A....Tajima T. (J. Clin. Endocrinol. Metab. 2013)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein. (PubMed id 18981173)1 Robakis T....Scheiffele P. (J. Biol. Chem. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3547 HGNC: 5948 AceView: IGSF1 Ensembl:ENSG00000147255 euGenes: HUgn3547
    ECgene: IGSF1 H-InvDB: IGSF1

    (According to HUGE)
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    HUGE: KIAA0364

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IGSF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IGSF1 gene:
    Search GeneIP for patents involving IGSF1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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