Format

Send to:

Choose Destination

SEMA3E semaphorin 3E [ Homo sapiens (human) ]

Gene ID: 9723, updated on 22-May-2016
Official Symbol
SEMA3Eprovided by HGNC
Official Full Name
semaphorin 3Eprovided by HGNC
Primary source
HGNC:HGNC:10727
See related
Ensembl:ENSG00000170381 HPRD:11545; MIM:608166; Vega:OTTHUMG00000154693
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
SEMAH; coll-5; M-SEMAH; M-SemaK
Summary
Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
Orthologs
Location:
7q21.11
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 7 NC_000007.14 (83363906..83649163, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (82993222..83278479, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene piccolo presynaptic cytomatrix protein Neighboring gene RNA, 5S ribosomal pseudogene 235 Neighboring gene uncharacterized LOC105375377 Neighboring gene uncharacterized LOC105375378 Neighboring gene RAD23 homolog B, nucleotide excision repair protein pseudogene 2 Neighboring gene semaphorin 3A

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
CHARGE association
MedGen: C0265354 OMIM: 214800 GeneReviews: CHARGE Syndrome
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of sema domain, immunoglobulin domain, short basic domain, secreted, 3E (SEMA3E) in primary human brain microvascular endothelial cells 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...

Markers

Homology

Clone Names

  • KIAA0331

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chemorepellent activity IBA
Inferred from Biological aspect of Ancestor
more info
 
neuropilin binding IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
semaphorin receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
negative chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of axon extension involved in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
 
negative regulation of cell-matrix adhesion ISS
Inferred from Sequence or Structural Similarity
more info
 
neural crest cell migration IBA
Inferred from Biological aspect of Ancestor
more info
 
patterning of blood vessels ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of actin cytoskeleton reorganization ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
semaphorin-plexin signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
semaphorin-plexin signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
synapse organization ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 
Preferred Names
semaphorin-3E
Names
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E

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_021242.1 RefSeqGene

    Range
    5001..290258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001178129.1NP_001171600.1  semaphorin-3E isoform 2

    See identical proteins and their annotated locations for NP_001171600.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC079799, AK303925, BC152458
    Consensus CDS
    CCDS55121.1
    UniProtKB/Swiss-Prot
    O15041
    Related
    ENSP00000405052, OTTHUMP00000206420, ENST00000427262, OTTHUMT00000336607
    Conserved Domains (3) summary
    cd05871
    Location:525610
    Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin
    cd11253
    Location:1459
    Sema_3E; The Sema domain, a protein interacting module, of semaphorin 3E (Sema3E)
    smart00423
    Location:458506
    PSI; domain found in Plexins, Semaphorins and Integrins
  2. NM_012431.2NP_036563.1  semaphorin-3E isoform 1 precursor

    See identical proteins and their annotated locations for NP_036563.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC079799, BC140706, BC152458, DA722912, DB215551
    Consensus CDS
    CCDS34674.1
    UniProtKB/Swiss-Prot
    O15041
    Related
    ENSP00000303212, OTTHUMP00000206419, ENST00000307792, OTTHUMT00000336606
    Conserved Domains (3) summary
    cd05871
    Location:585670
    Ig_Semaphorin_classIII; Immunoglobulin (Ig)-like domain of class III semaphorin
    cd11253
    Location:49519
    Sema_3E; The Sema domain, a protein interacting module, of semaphorin 3E (Sema3E)
    smart00423
    Location:518566
    PSI; domain found in Plexins, Semaphorins and Integrins

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_000007.14 Reference GRCh38.p2 Primary Assembly

    Range
    83363906..83649163 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516715.1XP_011515017.1  

    Conserved Domains (3) summary
    cd11253
    Location:49519
    Sema_3E; The Sema domain, a protein interacting module, of semaphorin 3E (Sema3E)
    smart00423
    Location:518566
    PSI; domain found in Plexins, Semaphorins and Integrins
    cl11960
    Location:585628
    Ig; Immunoglobulin domain

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    82923279..83208527 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)