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    VSIG1 V-set and immunoglobulin domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 340547, updated on 28-Oct-2024

    Summary

    Official Symbol
    VSIG1provided by HGNC
    Official Full Name
    V-set and immunoglobulin domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:28675
    See related
    Ensembl:ENSG00000101842 MIM:300620; AllianceGenome:HGNC:28675
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPA34; dJ889N15.1; 1700062D20Rik
    Summary
    This gene encodes a member of the junctional adhesion molecule (JAM) family. The encoded protein contains multiple glycosylation sites at the N-terminal region, and multiple phosphorylation sites and glutamic acid/proline (EP) repeats at the C-terminal region. The gene is expressed in normal stomach and testis, as well as in gastric, esophageal and ovarian cancers. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
    Expression
    Biased expression in stomach (RPKM 88.2), testis (RPKM 34.6) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See VSIG1 in Genome Data Viewer
    Location:
    Xq22.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (108018879..108079184)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (106456465..106516780)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (107288295..107322414)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107192029-107192530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107192531-107193030 Neighboring gene TMEM230 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:107203211-107203710 Neighboring gene NACHT, LRR and PYD domains-containing protein 10-like Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:107234349-107235548 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:107239283-107239988 Neighboring gene NLR family pyrin domain containing 3 pseudogene 1 Neighboring gene testis expressed 13B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29839 Neighboring gene proteasome 26S subunit, non-ATPase 10 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:107370111-107370674 Neighboring gene autophagy related 4A cysteine peptidase Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:107399852-107400352 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:107419738-107420424 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:107420425-107421109 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:107421110-107421795 Neighboring gene collagen type IV alpha 6 chain Neighboring gene uncharacterized LOC124905205

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC44287

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in epithelial cell morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in maintenance of gastrointestinal epithelium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in basolateral plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    V-set and immunoglobulin domain-containing protein 1
    Names
    cell surface A33 antigen
    glycoprotein A34

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016264.2 RefSeqGene

      Range
      31188..65307
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001170553.2NP_001164024.1  V-set and immunoglobulin domain-containing protein 1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001164024.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK301311, AL031177, BX648658
      Consensus CDS
      CCDS55474.1
      UniProtKB/TrEMBL
      A8K8V7
      Related
      ENSP00000402219.3, ENST00000415430.7
      Conserved Domains (3) summary
      cd00096
      Location:193260
      Ig; Immunoglobulin domain
      smart00410
      Location:190263
      IG_like; Immunoglobulin like
      cl11960
      Location:28163
      Ig; Immunoglobulin domain
    2. NM_182607.5NP_872413.1  V-set and immunoglobulin domain-containing protein 1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_872413.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame coding exon, as compared to variant 1. The resulting isoform (2) lacks an internal segment, as compared to isoform 1.
      Source sequence(s)
      AL031177, BX648658
      Consensus CDS
      CCDS14535.1
      UniProtKB/Swiss-Prot
      C9J4P2, Q6MZS4, Q86XK7
      UniProtKB/TrEMBL
      A8K8V7
      Related
      ENSP00000217957.3, ENST00000217957.10
      Conserved Domains (3) summary
      pfam13927
      Location:142215
      Ig_3; Immunoglobulin domain
      cl11960
      Location:31127
      Ig; Immunoglobulin domain
      cl25865
      Location:275342
      Trypan_PARP; Procyclic acidic repetitive protein (PARP)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      108018879..108079184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530936.3XP_011529238.1  V-set and immunoglobulin domain-containing protein 1 isoform X2

      UniProtKB/TrEMBL
      A8K8V7
      Conserved Domains (3) summary
      cd00096
      Location:212279
      Ig; Immunoglobulin domain
      smart00410
      Location:209282
      IG_like; Immunoglobulin like
      cl11960
      Location:90182
      Ig; Immunoglobulin domain
    2. XM_047442073.1XP_047298029.1  V-set and immunoglobulin domain-containing protein 1 isoform X4

    3. XM_005262127.5XP_005262184.1  V-set and immunoglobulin domain-containing protein 1 isoform X1

      UniProtKB/TrEMBL
      A8K8V7
      Conserved Domains (3) summary
      cd00096
      Location:219286
      Ig; Immunoglobulin domain
      smart00410
      Location:216289
      IG_like; Immunoglobulin like
      cl11960
      Location:97189
      Ig; Immunoglobulin domain
    4. XM_047442072.1XP_047298028.1  V-set and immunoglobulin domain-containing protein 1 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      106456465..106516780
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326974.1XP_054182949.1  V-set and immunoglobulin domain-containing protein 1 isoform X4

    2. XM_054326972.1XP_054182947.1  V-set and immunoglobulin domain-containing protein 1 isoform X1

    3. XM_054326973.1XP_054182948.1  V-set and immunoglobulin domain-containing protein 1 isoform X3