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

Gene ID: 8482, updated on 17-Jun-2019

Summary

Official Symbol
SEMA7Aprovided by HGNC
Official Full Name
semaphorin 7A (John Milton Hagen blood group)provided by HGNC
Primary source
HGNC:HGNC:10741
See related
Ensembl:ENSG00000138623 MIM:607961
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
This gene encodes a member of the semaphorin family of proteins. The encoded preproprotein is proteolytically processed to generate the mature glycosylphosphatidylinositol (GPI)-anchored membrane glycoprotein. The encoded protein is found on activated lymphocytes and erythrocytes and may be involved in immunomodulatory and neuronal processes. The encoded protein carries the John Milton Hagen (JMH) blood group antigens. Mutations in this gene may be associated with reduced bone mineral density (BMD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Expression
Broad expression in testis (RPKM 25.1), spleen (RPKM 22.9) and 14 other tissues See more
Orthologs

Genomic context

See SEMA7A in Genome Data Viewer
Location:
15q24.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (74409284..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 member 1 Neighboring gene CYP11A1 promoter region Neighboring gene long intergenic non-protein coding RNA 2255 Neighboring gene microRNA 6881 Neighboring gene ubiquitin like 7 Neighboring gene UBL7 antisense RNA 1 (head to head) Neighboring gene uncharacterized LOC102723714

Genomic regions, transcripts, and products

Expression

  • Project title: 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 FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
John Milton Hagen blood group 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

HIV-1 interactions

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC126692, MGC126696

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chemorepellent activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integrin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT neuropilin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
semaphorin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
axon extension IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
inflammatory response IEA
Inferred from Electronic Annotation
more info
 
integrin-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integrin-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of axon extension involved in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neural crest cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
olfactory lobe development IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation HDA PubMed 
positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of axon extension IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of axon extension IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of macrophage cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of macrophage cytokine production ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of inflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
 
semaphorin-plexin signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with collagen-containing extracellular matrix HDA PubMed 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
external side of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
semaphorin-7A
Names
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 7A, GPI membrane anchor (John Milton Hagen blood group)
semaphorin-K1
semaphorin-L

NCBI Reference Sequences (RefSeq)

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), LRG_818

mRNA and Protein(s)

  1. NM_001146029.3NP_001139501.1  semaphorin-7A isoform 2 precursor

    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. The encoded isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AC090826, AI972833, AK001895, AK293280, BF792612, DA815098
    Consensus CDS
    CCDS53959.1
    UniProtKB/Swiss-Prot
    O75326
    UniProtKB/TrEMBL
    B3KMH6
    Related
    ENSP00000438966.2, ENST00000543145.6
    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:479513
    PSI; Plexin repeat
    cl11960
    Location:535605
    Ig; Immunoglobulin domain
  2. NM_001146030.2NP_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) has a shorter N-terminus and lacks a predicted signal peptide compared to isoform 1.
    Source sequence(s)
    AC090826, AI972833, AK001895, AK293280, BF792612, DA136330, DA232032
    Consensus CDS
    CCDS53958.1
    UniProtKB/Swiss-Prot
    O75326
    UniProtKB/TrEMBL
    B3KMH6, F5GYX3
    Related
    ENSP00000441493.1, ENST00000542748.6
    Conserved Domains (4) summary
    smart00410
    Location:399460
    IG_like; Immunoglobulin like
    pfam01437
    Location:328362
    PSI; Plexin repeat
    cl11960
    Location:384454
    Ig; Immunoglobulin domain
    cl15693
    Location:1326
    Sema; The Sema domain, a protein interacting module, of semaphorins and plexins
  3. NM_003612.5NP_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, AI972833, AK001895, AK312257, BF792612
    Consensus CDS
    CCDS10262.1
    UniProtKB/Swiss-Prot
    O75326
    UniProtKB/TrEMBL
    B3KMH6
    Related
    ENSP00000261918.4, ENST00000261918.9
    Conserved Domains (2) summary
    cd11243
    Location:72491
    Sema_7A; The Sema domain, a protein interacting module, of semaphorin 7A (Sema7A, also called CD108)
    pfam01437
    Location:493527
    PSI; Plexin repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    74409284..74433958 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160016.1 Reference GRCh38.p13 PATCHES

    Range
    238553..263227 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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