Format

Send to:

Choose Destination
    • Showing Current items.

    ENAH ENAH, actin regulator [ Homo sapiens (human) ]

    Gene ID: 55740, updated on 23-Sep-2018

    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; Vega:OTTHUMG00000037742
    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 current GRCh38.p12 (GCF_000001405.38) 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 uncharacterized LOC105373110 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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat'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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    WW domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    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
      11903..178217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008493.2NP_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, OTTHUMP00000216548, ENST00000366844.7, OTTHUMT00000357426
      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_018212.5NP_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, OTTHUMP00000035863, ENST00000366843.6, OTTHUMT00000092060
      Conserved Domains (2) summary
      cd01207
      Location:5112
      EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
      pfam08776
      Location:533566
      VASP_tetra; VASP tetramerization 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.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 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
    Support Center