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ENAH ENAH actin regulator [ Homo sapiens (human) ]

Gene ID: 55740, updated on 11-Sep-2019

Summary

Official Symbol
ENAHprovided by HGNC
Official Full Name
ENAH actin regulatorprovided by HGNC
Primary source
HGNC:HGNC:18271
See related
Ensembl:ENSG00000154380 MIM:609061
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
ENA; MENA; NDPP1
Summary
This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]
Expression
Ubiquitous expression in gall bladder (RPKM 8.3), prostate (RPKM 7.8) and 24 other tissues See more
Orthologs

Genomic context

See ENAH in Genome Data Viewer
Location:
1q42.12
Exon count:
20
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (225486829..225660046, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (225674534..225840845, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lamin B receptor Neighboring gene long intergenic non-protein coding RNA 2765 Neighboring gene uncharacterized LOC102723834 Neighboring gene uncharacterized LOC107985352 Neighboring gene RNA, U6 small nuclear 1304, 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?

Phenotypes

NHGRI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH3 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
WW domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
actin binding IEA
Inferred from Electronic Annotation
more info
 
profilin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
actin polymerization or depolymerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin polymerization-dependent cell motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
axon guidance TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
filopodium IEA
Inferred from Electronic Annotation
more info
 
focal adhesion HDA PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
 
lamellipodium IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein enabled homolog
Names
enabled homolog
mammalian enabled variant 11a
mammalian enabled variant pan

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_051578.1 RefSeqGene

    Range
    11923..178217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008493.3NP_001008493.1  protein enabled homolog isoform a

    See identical proteins and their annotated locations for NP_001008493.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as mena+11a) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC092811, AF519769, AK096246, BU675547, CB961874
    Consensus CDS
    CCDS31041.1
    UniProtKB/Swiss-Prot
    Q8N8S7
    Related
    ENSP00000355809.2, ENST00000366844.7
    Conserved Domains (2) summary
    cd01207
    Location:5112
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:554587
    VASP_tetra; VASP tetramerization domain
  2. NM_018212.6NP_060682.2  protein enabled homolog isoform b

    See identical proteins and their annotated locations for NP_060682.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC092811, AK096246, AY345143, BU675547, CB961874
    Consensus CDS
    CCDS31040.1
    UniProtKB/Swiss-Prot
    Q8N8S7
    Related
    ENSP00000355808.2, ENST00000366843.6
    Conserved Domains (2) summary
    cd01207
    Location:5112
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:533567
    VASP_tetra; VASP tetramerisation domain

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    225486829..225660046 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024448317.1XP_024304085.1  protein enabled homolog isoform X17

    Conserved Domains (3) summary
    cd01207
    Location:199
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:769803
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:316551
    Atrophin-1; Atrophin-1 family
  2. XM_017001751.1XP_016857240.1  protein enabled homolog isoform X14

  3. XM_024448315.1XP_024304083.1  protein enabled homolog isoform X16

    Related
    ENSP00000489607.1, ENST00000635051.1
    Conserved Domains (3) summary
    cd01207
    Location:5112
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:782816
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:329564
    Atrophin-1; Atrophin-1 family
  4. XM_024448311.1XP_024304079.1  protein enabled homolog isoform X11

    Conserved Domains (3) summary
    cd01207
    Location:5112
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:805839
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:352587
    Atrophin-1; Atrophin-1 family
  5. XM_024448313.1XP_024304081.1  protein enabled homolog isoform X13

    Conserved Domains (3) summary
    cd01207
    Location:19126
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:796830
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:343578
    Atrophin-1; Atrophin-1 family
  6. XM_024448310.1XP_024304078.1  protein enabled homolog isoform X7

    Conserved Domains (3) summary
    cd01207
    Location:19126
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:819853
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:366601
    Atrophin-1; Atrophin-1 family
  7. XM_024448309.1XP_024304077.1  protein enabled homolog isoform X7

    Conserved Domains (3) summary
    cd01207
    Location:19126
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:819853
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:366601
    Atrophin-1; Atrophin-1 family
  8. XM_024448314.1XP_024304082.1  protein enabled homolog isoform X15

    Conserved Domains (3) summary
    cd01207
    Location:199
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:792826
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:339574
    Atrophin-1; Atrophin-1 family
  9. XM_024448316.1XP_024304084.1  protein enabled homolog isoform X17

    Conserved Domains (3) summary
    cd01207
    Location:199
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:769803
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:316551
    Atrophin-1; Atrophin-1 family
  10. XM_017001752.1XP_016857241.1  protein enabled homolog isoform X18

  11. XM_017001748.1XP_016857237.1  protein enabled homolog isoform X9

  12. XM_024448319.1XP_024304087.1  protein enabled homolog isoform X20

    Conserved Domains (3) summary
    cd01207
    Location:267374
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:10231057
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:591826
    Atrophin-1; Atrophin-1 family
  13. XM_024448308.1XP_024304076.1  protein enabled homolog isoform X4

    Conserved Domains (3) summary
    cd01207
    Location:267374
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:10441078
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:591826
    Atrophin-1; Atrophin-1 family
  14. XM_017001749.1XP_016857238.1  protein enabled homolog isoform X10

  15. XM_011544229.2XP_011542531.2  protein enabled homolog isoform X6

  16. XM_024448318.1XP_024304086.1  protein enabled homolog isoform X19

    Conserved Domains (3) summary
    cd01207
    Location:267374
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:10421076
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:610845
    Atrophin-1; Atrophin-1 family
  17. XM_024448306.1XP_024304074.1  protein enabled homolog isoform X2

    Conserved Domains (3) summary
    cd01207
    Location:267374
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:10631097
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:610845
    Atrophin-1; Atrophin-1 family
  18. XM_017001750.1XP_016857239.1  protein enabled homolog isoform X12

  19. XM_017001747.1XP_016857236.1  protein enabled homolog isoform X8

  20. XM_017001746.2XP_016857235.1  protein enabled homolog isoform X5

  21. XM_024448307.1XP_024304075.1  protein enabled homolog isoform X3

    Conserved Domains (3) summary
    cd01207
    Location:267374
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:10461080
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:614849
    Atrophin-1; Atrophin-1 family
  22. XM_024448305.1XP_024304073.1  protein enabled homolog isoform X1

    Conserved Domains (3) summary
    cd01207
    Location:267374
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    pfam08776
    Location:10671101
    VASP_tetra; VASP tetramerisation domain
    cl26464
    Location:614849
    Atrophin-1; Atrophin-1 family
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