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SEMA5A semaphorin 5A [ Homo sapiens (human) ]

Gene ID: 9037, updated on 3-May-2020

Summary

Official Symbol
SEMA5Aprovided by HGNC
Official Full Name
semaphorin 5Aprovided by HGNC
Primary source
HGNC:HGNC:10736
See related
Ensembl:ENSG00000112902 MIM:609297
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
semF; SEMAF
Summary
This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]
Expression
Broad expression in lung (RPKM 6.9), kidney (RPKM 6.5) and 24 other tissues See more
Orthologs

Genomic context

See SEMA5A in Genome Data Viewer
Location:
5p15.31
Exon count:
28
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (9035030..9546121, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (9035138..9546233, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene MT-CYB pseudogene 37 Neighboring gene uncharacterized LOC101929307 Neighboring gene long intergenic non-protein coding RNA 2199 Neighboring gene microRNA 4636 Neighboring gene SEMA5A antisense RNA 1 Neighboring gene uncharacterized LOC101929359 Neighboring gene small nucleolar RNA, C/D box 123 Neighboring gene small nucleolar RNA host gene 18

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 Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide linkage and association scan reveals novel loci for autism.
NHGRI GWA Catalog
Genome-wide association of serum uric acid concentration: replication of sequence variants in an island population of the Adriatic coast of Croatia.
NHGRI GWA Catalog
High-resolution whole-genome association study of Parkinson disease.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • FLJ12815

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chondroitin sulfate proteoglycan binding ISS
Inferred from Sequence or Structural Similarity
more info
 
heparan sulfate proteoglycan binding ISS
Inferred from Sequence or Structural Similarity
more info
 
semaphorin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
semaphorin receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
syndecan binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
axon extension IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axonal fasciculation ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel endothelial cell proliferation involved in sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion TAS
Traceable Author Statement
more info
PubMed 
cell chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
diencephalon development ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of axon extension involved in axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of endothelial cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
nervous system development TAS
Traceable Author Statement
more info
PubMed 
positive chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of actin filament depolymerization ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of axon extension involved in axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of endothelial cell chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of endothelial cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of protein kinase B signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
semaphorin-plexin signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
signal clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
semaphorin-5A
Names
sema F
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
semaphorin F

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_016410.1 RefSeqGene

    Range
    5001..516096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003966.3NP_003957.2  semaphorin-5A precursor

    See identical proteins and their annotated locations for NP_003957.2

    Status: REVIEWED

    Source sequence(s)
    AC021088, AC022446, AC027335, AC027336, AC034214, AC091906
    Consensus CDS
    CCDS3875.1
    UniProtKB/Swiss-Prot
    Q13591
    UniProtKB/TrEMBL
    X5DR95
    Related
    ENSP00000371936.5, ENST00000382496.10
    Conserved Domains (3) summary
    cd11263
    Location:50485
    Sema_5A; The Sema domain, a protein interacting module, of semaphorin 5A (Sema5A)
    smart00209
    Location:844896
    TSP1; Thrombospondin type 1 repeats
    pfam01437
    Location:486533
    PSI; Plexin repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    9035030..9546121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010016.2XP_016865505.1  semaphorin-5A isoform X3

  2. XM_011514157.2XP_011512459.1  semaphorin-5A isoform X1

    See identical proteins and their annotated locations for XP_011512459.1

    UniProtKB/Swiss-Prot
    Q13591
    UniProtKB/TrEMBL
    X5DR95
    Conserved Domains (3) summary
    cd11263
    Location:50485
    Sema_5A; The Sema domain, a protein interacting module, of semaphorin 5A (Sema5A)
    smart00209
    Location:844896
    TSP1; Thrombospondin type 1 repeats
    pfam01437
    Location:486533
    PSI; Plexin repeat
  3. XM_006714506.3XP_006714569.1  semaphorin-5A isoform X1

    See identical proteins and their annotated locations for XP_006714569.1

    UniProtKB/Swiss-Prot
    Q13591
    UniProtKB/TrEMBL
    X5DR95
    Conserved Domains (3) summary
    cd11263
    Location:50485
    Sema_5A; The Sema domain, a protein interacting module, of semaphorin 5A (Sema5A)
    smart00209
    Location:844896
    TSP1; Thrombospondin type 1 repeats
    pfam01437
    Location:486533
    PSI; Plexin repeat
  4. XM_011514156.2XP_011512458.1  semaphorin-5A isoform X1

    See identical proteins and their annotated locations for XP_011512458.1

    UniProtKB/Swiss-Prot
    Q13591
    UniProtKB/TrEMBL
    X5DR95
    Related
    ENSP00000499013.1, ENST00000652226.1
    Conserved Domains (3) summary
    cd11263
    Location:50485
    Sema_5A; The Sema domain, a protein interacting module, of semaphorin 5A (Sema5A)
    smart00209
    Location:844896
    TSP1; Thrombospondin type 1 repeats
    pfam01437
    Location:486533
    PSI; Plexin repeat
  5. XM_011514158.2XP_011512460.1  semaphorin-5A isoform X1

    See identical proteins and their annotated locations for XP_011512460.1

    UniProtKB/Swiss-Prot
    Q13591
    UniProtKB/TrEMBL
    X5DR95
    Conserved Domains (3) summary
    cd11263
    Location:50485
    Sema_5A; The Sema domain, a protein interacting module, of semaphorin 5A (Sema5A)
    smart00209
    Location:844896
    TSP1; Thrombospondin type 1 repeats
    pfam01437
    Location:486533
    PSI; Plexin repeat
  6. XM_011514155.2XP_011512457.1  semaphorin-5A isoform X1

    See identical proteins and their annotated locations for XP_011512457.1

    UniProtKB/Swiss-Prot
    Q13591
    UniProtKB/TrEMBL
    X5DR95
    Conserved Domains (3) summary
    cd11263
    Location:50485
    Sema_5A; The Sema domain, a protein interacting module, of semaphorin 5A (Sema5A)
    smart00209
    Location:844896
    TSP1; Thrombospondin type 1 repeats
    pfam01437
    Location:486533
    PSI; Plexin repeat
  7. XM_006714507.3XP_006714570.1  semaphorin-5A isoform X1

    See identical proteins and their annotated locations for XP_006714570.1

    UniProtKB/Swiss-Prot
    Q13591
    UniProtKB/TrEMBL
    X5DR95
    Conserved Domains (3) summary
    cd11263
    Location:50485
    Sema_5A; The Sema domain, a protein interacting module, of semaphorin 5A (Sema5A)
    smart00209
    Location:844896
    TSP1; Thrombospondin type 1 repeats
    pfam01437
    Location:486533
    PSI; Plexin repeat
  8. XM_011514159.2XP_011512461.1  semaphorin-5A isoform X2

    Conserved Domains (3) summary
    smart00209
    Location:797849
    TSP1; Thrombospondin type 1 repeats
    pfam01437
    Location:439486
    PSI; Plexin repeat
    cl15693
    Location:34438
    Sema; The Sema domain, a protein interacting module, of semaphorins and plexins
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