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    SEMA7A semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) [ Homo sapiens (human) ]

    Gene ID: 8482, updated on 27-Jun-2015
    Official Symbol
    SEMA7Aprovided by HGNC
    Official Full Name
    semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)provided by HGNC
    Primary source
    HGNC:HGNC:10741
    See related
    Ensembl:ENSG00000138623; HPRD:07081; MIM:607961; Vega:OTTHUMG00000139000
    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
    JMH; CD108; SEMAL; CDw108; SEMAK1; H-Sema-L; H-SEMA-K1
    Summary
    The protein encoded by this gene binds to cell surfaces through a glycosylphosphatidylinositol (GPI) linkage. The encoded glycoprotein is found on activated lymphocytes and erythrocytes. This protein may be involved in immunomodulatory and neuronal processes. Defects in this gene can result in loss of bone mineral density (BMD). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
    Orthologs
    See SEMA7A in Epigenomics, MapViewer
    Location:
    15q22.3-q23
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (74409289..74433958, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (74701630..74726299, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene cytochrome P450, family 11, subfamily A, polypeptide 1 Neighboring gene peptidylprolyl isomerase A (cyclophilin A) pseudogene Neighboring gene uncharacterized LOC105370894 Neighboring gene microRNA 6881 Neighboring gene ubiquitin-like 7 Neighboring gene UBL7 antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC101929333

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Blood group, john milton hagen system
    MedGen: C3553633 OMIM: 614745 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of semaphorin 7A, GPI membrane anchor (SEMA7A, CD108) PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of semaphorin 7A, GPI membrane anchor (SEMA7A, CD108) PubMed

    Go to the HIV-1, Human Interaction Database

    • Axon guidance, organism-specific biosystem (from KEGG)
      Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, conserved biosystem (from KEGG)
      Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • Other semaphorin interactions, organism-specific biosystem (from REACTOME)
      Other semaphorin interactions, organism-specific biosystemThere are eight classes of semaphorins and four types of plexins. Semaphorin (SEMA) classes 1 and 2 are found in invertebrates and classes 3-7 are vertebrate sempahorines. Sempahorin class 3 is secre...
    • Semaphorin interactions, organism-specific biosystem (from REACTOME)
      Semaphorin interactions, organism-specific biosystemSemaphorins are a large family of cell surface and secreted guidance molecules divided into eight classes on the basis of their structures. They all have an N-terminal conserved sema domain. Semaphor...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC126692, MGC126696

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    integrin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    axon guidance TAS
    Traceable Author Statement
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    integrin-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    olfactory lobe development IEA
    Inferred from Electronic Annotation
    more info
     
    osteoblast differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of ERK1 and ERK2 cascade IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of axon extension IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of macrophage cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of inflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    semaphorin-7A
    Names
    semaphorin-7A
    JMH blood group antigen
    John Milton Hagen blood group H-Sema K1
    john-Milton-Hargen human blood group Ag
    sema K1
    sema L
    sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, (semaphorin) 7A (JMH blood group)
    sema domain, immunoglobulin domain (Ig), and GPI membrane anchor, 7A
    semaphorin K1
    semaphorin L
    semaphorin-K1
    semaphorin-L

    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_011733.1 RefSeqGene

      Range
      5001..29670
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001146029.1NP_001139501.1  semaphorin-7A isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC090826, AK293280, BC101643, BU191525, DC408557
      Consensus CDS
      CCDS53959.1
      UniProtKB/Swiss-Prot
      O75326
      Conserved Domains (3) summary
      cd11243
      Location:72477
      Sema_7A; The Sema domain, a protein interacting module, of semaphorin 7A (Sema7A, also called CD108)
      pfam01437
      Location:479517
      PSI; Plexin repeat
      pfam13895
      Location:537606
      Ig_2; Immunoglobulin domain
    2. NM_001146030.1NP_001139502.1  semaphorin-7A isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC090826, BC101643, BU191525, DA136330
      Consensus CDS
      CCDS53958.1
      UniProtKB/TrEMBL
      F5GYX3
      UniProtKB/Swiss-Prot
      O75326
      Related
      ENSP00000441493, ENST00000542748
      Conserved Domains (4) summary
      smart00410
      Location:399460
      IG_like; Immunoglobulin like
      pfam01437
      Location:328366
      PSI; Plexin repeat
      pfam13895
      Location:386455
      Ig_2; Immunoglobulin domain
      cl15693
      Location:1326
      Sema; The Sema domain, a protein interacting module, of semaphorins and plexins
    3. NM_003612.3NP_003603.1  semaphorin-7A isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_003603.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC090826, AK312257, BC101643, BU191525
      Consensus CDS
      CCDS10262.1
      UniProtKB/Swiss-Prot
      O75326
      Related
      ENSP00000261918, OTTHUMP00000176868, ENST00000261918, OTTHUMT00000272904
      Conserved Domains (4) summary
      cd11243
      Location:72491
      Sema_7A; The Sema domain, a protein interacting module, of semaphorin 7A (Sema7A, also called CD108)
      smart00630
      Location:75466
      Sema; semaphorin domain
      pfam01437
      Location:493531
      PSI; Plexin repeat
      pfam13895
      Location:551620
      Ig_2; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      74409289..74433958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      74819752..74844421
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)