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SEMA3C semaphorin 3C [ Homo sapiens (human) ]

Gene ID: 10512, updated on 3-May-2020

Summary

Official Symbol
SEMA3Cprovided by HGNC
Official Full Name
semaphorin 3Cprovided by HGNC
Primary source
HGNC:HGNC:10725
See related
Ensembl:ENSG00000075223 MIM:602645
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
SemE; SEMAE
Summary
This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]
Expression
Broad expression in prostate (RPKM 41.1), urinary bladder (RPKM 40.3) and 20 other tissues See more
Orthologs

Genomic context

See SEMA3C in Genome Data Viewer
Location:
7q21.11
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (80742536..80922389, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (80371854..80551695, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986812 Neighboring gene G protein subunit alpha transducin 3 Neighboring gene CD36 molecule Neighboring gene HNF1 motif-containing MPRA enhancer 195 Neighboring gene voltage dependent anion channel 3 pseudogene

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chemorepellent activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
semaphorin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel remodeling IEA
Inferred from Electronic Annotation
more info
 
cardiac endothelial to mesenchymal transition IEA
Inferred from Electronic Annotation
more info
 
cardiac right ventricle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
dichotomous subdivision of terminal units involved in salivary gland branching IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
limb bud formation IEA
Inferred from Electronic Annotation
more info
 
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 
neural tube development IEA
Inferred from Electronic Annotation
more info
 
outflow tract septum morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-embryonic development IEA
Inferred from Electronic Annotation
more info
 
pulmonary myocardium development IEA
Inferred from Electronic Annotation
more info
 
response to drug TAS
Traceable Author Statement
more info
PubMed 
semaphorin-plexin signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
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 

General protein information

Preferred Names
semaphorin-3C
Names
sema E
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
semaphorin E

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_054744.1 RefSeqGene

    Range
    8329..184841
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350120.2NP_001337049.1  semaphorin-3C isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AA853650, AB000220, AC004972, AK304294, BC030690, BM473251, CN334967, CN334969, DC415474
    Conserved Domains (3) summary
    cd05871
    Location:593682
    Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin
    cd11251
    Location:63532
    Sema_3C; The Sema domain, a protein interacting module, of semaphorin 3C (Sema3C)
    smart00423
    Location:531568
    PSI; domain found in Plexins, Semaphorins and Integrins
  2. NM_001350121.1NP_001337050.1  semaphorin-3C isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AB000220, AC004880, AC073850, AC093683, AI491966
    Conserved Domains (3) summary
    cd05871
    Location:517606
    Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin
    cd11251
    Location:1456
    Sema_3C; The Sema domain, a protein interacting module, of semaphorin 3C (Sema3C)
    smart00423
    Location:455492
    PSI; domain found in Plexins, Semaphorins and Integrins
  3. NM_006379.5NP_006370.1  semaphorin-3C isoform 2 precursor

    See identical proteins and their annotated locations for NP_006370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AA853650, AB000220, AK304294, BC030690, BM473251, CN334967, CN334969
    Consensus CDS
    CCDS5596.1
    UniProtKB/Swiss-Prot
    Q99985
    Related
    ENSP00000265361.3, ENST00000265361.8
    Conserved Domains (3) summary
    cd05871
    Location:575664
    Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin
    cd11251
    Location:45514
    Sema_3C; The Sema domain, a protein interacting module, of semaphorin 3C (Sema3C)
    smart00423
    Location:513550
    PSI; domain found in Plexins, Semaphorins and Integrins

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_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    80742536..80922389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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