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SEMA5A semaphorin 5A [ Homo sapiens (human) ]

Gene ID: 9037, updated on 12-May-2016
Official Symbol
SEMA5Aprovided by HGNC
Official Full Name
semaphorin 5Aprovided by HGNC
Primary source
HGNC:HGNC:10736
See related
Ensembl:ENSG00000112902 HPRD:10219; MIM:609297; Vega:OTTHUMG00000090501
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]
Orthologs
Location:
5p15.2
Exon count:
28
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (9035026..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 uncharacterized LOC105374647 Neighboring gene uncharacterized LOC101929307 Neighboring gene uncharacterized LOC101929284 Neighboring gene microRNA 4636 Neighboring gene uncharacterized LOC101929338 Neighboring gene uncharacterized LOC101929359 Neighboring gene small nucleolar RNA, C/D box 123 Neighboring gene small nucleolar RNA host gene 18

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
  • 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...
  • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
    Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
  • 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...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
    O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • 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...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • 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...

Markers

Homology

Clone Names

  • FLJ12815

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chemorepellent activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
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 chemotaxis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of axon extension involved in axon guidance IBA
Inferred from Biological aspect of Ancestor
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 
neural crest cell migration IBA
Inferred from Biological aspect of Ancestor
more info
 
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 catenin import into nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
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
 
signal clustering ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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
semaphorin-F

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_003966.2NP_003957.2  semaphorin-5A precursor

    See identical proteins and their annotated locations for NP_003957.2

    Status: REVIEWED

    Source sequence(s)
    AC021088, AC027336, BC115696, BM669539, CX788776, DA336109, U52840
    Consensus CDS
    CCDS3875.1
    UniProtKB/Swiss-Prot
    Q13591
    UniProtKB/TrEMBL
    X5DR95
    Related
    ENSP00000371936, OTTHUMP00000115584, ENST00000382496, OTTHUMT00000206989
    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 Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

    Range
    9035026..9546121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514158.1XP_011512460.1  

    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
  2. XM_011514157.1XP_011512459.1  

    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_006714506.2XP_006714569.1  

    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_011514156.1XP_011512458.1  

    See identical proteins and their annotated locations for XP_011512458.1

    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
  5. XM_011514155.1XP_011512457.1  

    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
  6. XM_006714507.2XP_006714570.1  

    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
  7. XM_011514159.1XP_011512461.1  

    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

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    9034070..9546215 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)