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    ENAH ENAH actin regulator [ Homo sapiens (human) ]

    Gene ID: 55740, updated on 7-Aug-2022

    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; AllianceGenome:HGNC:18271
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ENAH in Genome Data Viewer
    Location:
    1q42.12
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (225486829..225653878, complement)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (224675098..224841093, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (225674531..225840825, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr1.11936 Neighboring gene uncharacterized LOC124900415 Neighboring gene Sharpr-MPRA regulatory region 13241 Neighboring gene long intergenic non-protein coding RNA 2765 Neighboring gene uncharacterized LOC124904526 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

    EBI GWAS Catalog

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

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

    General protein information

    Preferred Names
    protein enabled homolog
    Names
    Mena delta 11a
    enabled homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q9UFB8
      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_001377481.1NP_001364410.1  protein enabled homolog isoform c

      Status: REVIEWED

      Source sequence(s)
      AC092811, AL356216, AL591380
      Conserved Domains (3) summary
      cd01207
      Location:5112
      EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
      pfam08776
      Location:573607
      VASP_tetra; VASP tetramerisation domain
      cd22185
      Location:404430
      WH2_hVASP-like; Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 (WH2) of human Vasodilator-stimulated phosphoprotein and related proteins
    3. NM_001377482.1NP_001364411.1  protein enabled homolog isoform d

      Status: REVIEWED

      Source sequence(s)
      AC092811, AL591380, KM214203
      Conserved Domains (3) summary
      cd01207
      Location:5112
      EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
      pfam08776
      Location:552586
      VASP_tetra; VASP tetramerisation domain
      cd22185
      Location:404430
      WH2_hVASP-like; Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 (WH2) of human Vasodilator-stimulated phosphoprotein and related proteins
    4. NM_001377483.1NP_001364412.1  protein enabled homolog isoform e

      Status: REVIEWED

      Source sequence(s)
      AC092811, AL356216, AL591380
      Conserved Domains (3) summary
      cd01207
      Location:5112
      EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
      pfam08776
      Location:496530
      VASP_tetra; VASP tetramerisation domain
      cd22185
      Location:348374
      WH2_hVASP-like; Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 (WH2) of human Vasodilator-stimulated phosphoprotein and related proteins
    5. 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, ENST00000366843.7
      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 110 details...Open this link in a new tab

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      225486829..225653878 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001752.2XP_016857241.1  protein enabled homolog isoform X23

    2. XM_047424938.1XP_047280894.1  protein enabled homolog isoform X19

    3. XM_017001751.2XP_016857240.1  protein enabled homolog isoform X16

    4. XM_017001748.2XP_016857237.1  protein enabled homolog isoform X10

    5. XM_024448319.2XP_024304087.1  protein enabled homolog isoform X5

      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
    6. XM_024448308.2XP_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
    7. XM_047424939.1XP_047280895.1  protein enabled homolog isoform X20

    8. XM_017001749.2XP_016857238.1  protein enabled homolog isoform X11

    9. XM_011544229.3XP_011542531.2  protein enabled homolog isoform X7

    10. XM_024448318.2XP_024304086.1  protein enabled homolog isoform X28

      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
    11. XM_024448306.2XP_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
    12. XM_047424935.1XP_047280891.1  protein enabled homolog isoform X18

    13. XM_017001750.2XP_016857239.1  protein enabled homolog isoform X13

    14. XM_017001747.2XP_016857236.1  protein enabled homolog isoform X9

    15. XM_017001746.3XP_016857235.1  protein enabled homolog isoform X6

    16. XM_024448307.2XP_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
    17. XM_024448305.2XP_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
    18. XM_047424965.1XP_047280921.1  protein enabled homolog isoform X26

    19. XM_047424940.1XP_047280896.1  protein enabled homolog isoform X22

      Related
      ENSP00000489607.1, ENST00000635051.1
    20. XM_024448315.2XP_024304083.1  protein enabled homolog isoform X17

      Related
      ENSP00000512753.1, ENST00000696609.1
      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
    21. XM_047424914.1XP_047280870.1  protein enabled homolog isoform X14

    22. XM_024448311.2XP_024304079.1  protein enabled homolog isoform X12

      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
    23. XM_024448310.2XP_024304078.1  protein enabled homolog isoform X8

      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
    24. XM_047424969.1XP_047280925.1  protein enabled homolog isoform X27

    25. XM_047424960.1XP_047280916.1  protein enabled homolog isoform X25

    26. XM_047424958.1XP_047280914.1  protein enabled homolog isoform X24

    27. XM_047424925.1XP_047280881.1  protein enabled homolog isoform X15

    28. XM_047424962.1XP_047280918.1  protein enabled homolog isoform X25

    29. XM_024448309.2XP_024304077.1  protein enabled homolog isoform X8

      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
    30. XM_024448316.2XP_024304084.1  protein enabled homolog isoform X21

      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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      224675098..224841093 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)