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ENAH ENAH actin regulator [ Homo sapiens (human) ]

Gene ID: 55740, updated on 27-Nov-2024

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
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Genomic context

See ENAH in Genome Data Viewer
Location:
1q42.12
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (225486829..225653878, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (224675098..224841848, complement)
RS_2024_09 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 Neanderthal introgressed variant-containing enhancer experimental_5491 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:225614150-225614822 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:225614823-225615494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2621 Neighboring gene lamin B receptor Neighboring gene CRISPRi-validated cis-regulatory element chr1.11936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225633853-225634413 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225634414-225634974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225634975-225635534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225643575-225644075 Neighboring gene Sharpr-MPRA regulatory region 13241 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225648195-225648876 Neighboring gene long intergenic non-protein coding RNA 2765 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225653249-225654138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2625 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2626 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225660151-225660670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225660671-225661190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2627 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1857 Neighboring gene uncharacterized LOC124904526 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:225696090-225697289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225704628-225705150 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225705151-225705671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225706601-225707102 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225736695-225737194 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:225749625-225750126 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_5624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:225802428-225803258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1858 Neighboring gene uncharacterized LOC102723834 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:225887458-225888657 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:225897976-225899175 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:225900316-225900482 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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
involved_in actin polymerization-dependent cell motility IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in axon guidance IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in postsynaptic cytoskeleton organization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
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 
is_active_in focal adhesion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
 
located_in lamellipodium IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 
located_in postsynapse 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
    D0PQI2, Q502W5, Q5T5M7, Q5VTQ9, Q5VTR0, Q8N8S7, Q9NVF3, Q9UFB8
    UniProtKB/TrEMBL
    A8K2B4
    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
    UniProtKB/TrEMBL
    A0A097PIC4, A8K2B4
    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
    UniProtKB/TrEMBL
    A0A097PID1, A8K2B4
    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
    UniProtKB/TrEMBL
    A8K2B4
    Conserved Domains (3) summary
    cd01207
    Location:5112
    EVH1_Ena_VASP-like; Enabled/VASP family EVH1 domain
    cd22185
    Location:348374
    WH2_hVASP-like; Wiskott-Aldrich syndrome protein (WASP)-homology domain 2 (WH2) of human Vasodilator-stimulated phosphoprotein and related proteins
    pfam08776
    Location:494529
    VASP_tetra; VASP tetramerisation domain
  5. NM_001420159.1NP_001407088.1  protein enabled homolog isoform f

    Status: REVIEWED

    Source sequence(s)
    AC092811, AL356216, AL591380
  6. NM_001420160.1NP_001407089.1  protein enabled homolog isoform g

    Status: REVIEWED

    Source sequence(s)
    AC092811, AL356216, AL591380
    Related
    ENSP00000512753.1, ENST00000696609.1
  7. NM_001420161.1NP_001407090.1  protein enabled homolog isoform h

    Status: REVIEWED

    Source sequence(s)
    AC092811, AL356216, AL591380
    Related
    ENSP00000489607.1, ENST00000635051.1
  8. NM_001420162.1NP_001407091.1  protein enabled homolog isoform i

    Status: REVIEWED

    Source sequence(s)
    AC092811, AL356216, AL591380
  9. 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/TrEMBL
    A0A4D6J698, A8K2B4
    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: GCF_000001405.40-RS_2024_08

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_024448311.2XP_024304079.1  protein enabled homolog isoform X12

    UniProtKB/TrEMBL
    A0A0U1RRM6
    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
  19. XM_024448310.2XP_024304078.1  protein enabled homolog isoform X8

    UniProtKB/TrEMBL
    A0A0U1RRM6
    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
  20. XM_047424969.1XP_047280925.1  protein enabled homolog isoform X27

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

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

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

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

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

    UniProtKB/TrEMBL
    A0A0U1RRM6
    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
  26. XM_024448316.2XP_024304084.1  protein enabled homolog isoform X21

    UniProtKB/TrEMBL
    A0A0U1RRM6
    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..224841848 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337611.1XP_054193586.1  protein enabled homolog isoform X23

  2. XM_054337607.1XP_054193582.1  protein enabled homolog isoform X19

  3. XM_054337604.1XP_054193579.1  protein enabled homolog isoform X16

  4. XM_054337598.1XP_054193573.1  protein enabled homolog isoform X10

  5. XM_054337592.1XP_054193567.1  protein enabled homolog isoform X5

  6. XM_054337591.1XP_054193566.1  protein enabled homolog isoform X4

  7. XM_054337608.1XP_054193583.1  protein enabled homolog isoform X20

  8. XM_054337599.1XP_054193574.1  protein enabled homolog isoform X11

  9. XM_054337594.1XP_054193569.1  protein enabled homolog isoform X7

  10. XM_054337616.1XP_054193591.1  protein enabled homolog isoform X28

  11. XM_054337589.1XP_054193564.1  protein enabled homolog isoform X2

  12. XM_054337606.1XP_054193581.1  protein enabled homolog isoform X18

  13. XM_054337601.1XP_054193576.1  protein enabled homolog isoform X13

  14. XM_054337597.1XP_054193572.1  protein enabled homolog isoform X9

  15. XM_054337593.1XP_054193568.1  protein enabled homolog isoform X6

  16. XM_054337590.1XP_054193565.1  protein enabled homolog isoform X3

  17. XM_054337588.1XP_054193563.1  protein enabled homolog isoform X1

  18. XM_054337600.1XP_054193575.1  protein enabled homolog isoform X12

  19. XM_054337596.1XP_054193571.1  protein enabled homolog isoform X8

  20. XM_054337603.1XP_054193578.1  protein enabled homolog isoform X15

  21. XM_054337612.1XP_054193587.1  protein enabled homolog isoform X24

  22. XM_054337615.1XP_054193590.1  protein enabled homolog isoform X27

  23. XM_054337613.1XP_054193588.1  protein enabled homolog isoform X25

  24. XM_054337595.1XP_054193570.1  protein enabled homolog isoform X8

  25. XM_054337609.1XP_054193584.1  protein enabled homolog isoform X21