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    EHBP1 EH domain binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 23301, updated on 17-Jun-2019

    Summary

    Official Symbol
    EHBP1provided by HGNC
    Official Full Name
    EH domain binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:29144
    See related
    Ensembl:ENSG00000115504 MIM:609922
    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
    HPC12; NACSIN
    Summary
    This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
    Expression
    Ubiquitous expression in ovary (RPKM 15.6), fat (RPKM 14.1) and 25 other tissues See more
    Orthologs

    Genomic context

    See EHBP1 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (62673878..63046487)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (62900986..63273622)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal L24 domain containing 1 pseudogene 2 Neighboring gene phosphoserine aminotransferase 1 pseudogene 2 Neighboring gene VISTA enhancer hs690 Neighboring gene ribosomal protein S20 pseudogene 9 Neighboring gene uncharacterized LOC100132215 Neighboring gene VISTA enhancer hs1066 Neighboring gene orthodenticle homeobox 1

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Prostate cancer, hereditary, 12
    MedGen: C2678479 OMIM: 611868 GeneReviews: Not available
    not available

    NHGRI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    NHGRI GWA Catalog
    Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Identification of seven new prostate cancer susceptibility loci through a genome-wide association study.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0903

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    EH domain-binding protein 1
    Names
    NPF calponin-like protein
    testis tissue sperm-binding protein Li 50e

    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_016758.2 RefSeqGene

      Range
      5001..377637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142614.2NP_001136086.1  EH domain-binding protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001136086.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding region, compared to variant 1. This variant encodes a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AK292545, AY531390, BC067215, DB072549
      Consensus CDS
      CCDS46299.1
      UniProtKB/Swiss-Prot
      Q8NDI1
      UniProtKB/TrEMBL
      A0A140VK17
      Related
      ENSP00000385524.1, ENST00000405289.5
      Conserved Domains (3) summary
      pfam00307
      Location:412508
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10351175
      DUF3585; Protein of unknown function (DUF3585)
    2. NM_001142615.3NP_001136087.1  EH domain-binding protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001136087.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks two in-frame exons in the coding region, compared to variant 1. This variant encodes a shorter isoform (3) than isoform 1. Variants 3 and 4 encode the same isoform (3).
      Source sequence(s)
      AC007098, AK292545, BC067215
      Consensus CDS
      CCDS46300.1
      UniProtKB/Swiss-Prot
      Q8NDI1
      UniProtKB/TrEMBL
      A8K930
      Related
      ENSP00000384143.3, ENST00000405015.7
      Conserved Domains (4) summary
      pfam00307
      Location:412514
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10031139
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:239348
      NPF; Rabosyn-5 repeating NPF sequence-motif
    3. NM_001142616.3NP_001136088.1  EH domain-binding protein 1 isoform 3

      See identical proteins and their annotated locations for NP_001136088.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two in-frame exons in the coding region, compared to variant 1. This variant encodes a shorter isoform (3) than isoform 1. Variants 3, 4 and 11 encode the same isoform (3).
      Source sequence(s)
      AC092567, BC067215, CA394214, HY174910
      Consensus CDS
      CCDS46300.1
      UniProtKB/Swiss-Prot
      Q8NDI1
      Related
      ENSP00000403783.1, ENST00000431489.5
      Conserved Domains (4) summary
      pfam00307
      Location:412514
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10031139
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:239348
      NPF; Rabosyn-5 repeating NPF sequence-motif
    4. NM_001354212.1NP_001341141.1  EH domain-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 5, 6, and 7 encode the same isoform (1).
      Source sequence(s)
      AC092567, AY331186, AY531390, BC067215, BP361773, DA403235
      Consensus CDS
      CCDS1872.1
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10741210
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    5. NM_001354213.1NP_001341142.1  EH domain-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 5, 6, and 7 encode the same isoform (1).
      Source sequence(s)
      AY331186, AY531390, BC067215, BP361773, DA403235, DB072549
      Consensus CDS
      CCDS1872.1
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10741210
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    6. NM_001354214.1NP_001341143.1  EH domain-binding protein 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1, 5, 6, and 7 encode the same isoform (1).
      Source sequence(s)
      AY331186, AY531390, BC067215, BP361773, DA403235, DB072549
      Consensus CDS
      CCDS1872.1
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10741210
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    7. NM_001354215.1NP_001341144.1  EH domain-binding protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AY331186, AY531390, BC067215, BP361773, BQ215191, DA403235, DB072549
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10731209
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    8. NM_001354216.2NP_001341145.1  EH domain-binding protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AY331186, AY531390, BC067215, BP361773, BQ215191, DA312518, DA403235
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10731209
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    9. NM_001354217.1NP_001341146.1  EH domain-binding protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AY531390, BC029477, BC067215, BP361773, DA403235, DA558402
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10381174
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    10. NM_001354218.1NP_001341147.1  EH domain-binding protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      BC067215, DB072549
      Consensus CDS
      CCDS46300.1
      Conserved Domains (4) summary
      pfam00307
      Location:412514
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10031139
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:239348
      NPF; Rabosyn-5 repeating NPF sequence-motif
    11. NM_001354219.2NP_001341148.1  EH domain-binding protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC092567, BC067215, CA394214, DA555784, HY174910
      Conserved Domains (4) summary
      pfam00307
      Location:412514
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10021138
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:239348
      NPF; Rabosyn-5 repeating NPF sequence-motif
    12. NM_001354220.1NP_001341149.1  EH domain-binding protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      BC067215, DA555784, DB072549
      Conserved Domains (4) summary
      pfam00307
      Location:412514
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10021138
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:239348
      NPF; Rabosyn-5 repeating NPF sequence-motif
    13. NM_001354221.2NP_001341150.1  EH domain-binding protein 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC092567, AY331186, AY531390, BC067215, BP361773, CA394214, DA403235, HY174910
      Conserved Domains (4) summary
      pfam00307
      Location:447525
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:792928
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    14. NM_001354222.2NP_001341151.1  EH domain-binding protein 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC092567, BC067215, CA394214, HY174910
      Conserved Domains (4) summary
      pfam00307
      Location:412490
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:721857
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:239348
      NPF; Rabosyn-5 repeating NPF sequence-motif
    15. NM_015252.5NP_056067.2  EH domain-binding protein 1 isoform 1

      See identical proteins and their annotated locations for NP_056067.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1). Variants 1, 5, 6, and 7 encode the same isoform (1).
      Source sequence(s)
      AC092567, AY331186, AY531390, BC067215, BP361773, CA394214, DA403235, HY174910
      Consensus CDS
      CCDS1872.1
      UniProtKB/Swiss-Prot
      Q8NDI1
      Related
      ENSP00000263991.5, ENST00000263991.9
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10741210
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      62673878..63046487
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011532718.3XP_011531020.1  EH domain-binding protein 1 isoform X7

      Conserved Domains (2) summary
      pfam00307
      Location:327423
      CH; Calponin homology (CH) domain
      pfam12130
      Location:9501090
      DUF3585; Protein of unknown function (DUF3585)
    2. XM_024452766.1XP_024308534.1  EH domain-binding protein 1 isoform X8

      Conserved Domains (3) summary
      pfam00307
      Location:292394
      CH; Calponin homology (CH) domain
      pfam12130
      Location:9191055
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:119228
      NPF; Rabosyn-5 repeating NPF sequence-motif
    3. XM_017003650.2XP_016859139.1  EH domain-binding protein 1 isoform X4

      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10381174
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    4. XM_011532715.3XP_011531017.1  EH domain-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011531017.1

      UniProtKB/Swiss-Prot
      Q8NDI1
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10741210
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    5. XM_006711971.3XP_006712034.1  EH domain-binding protein 1 isoform X4

      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10381174
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    6. XM_005264227.1XP_005264284.1  EH domain-binding protein 1 isoform X3

      See identical proteins and their annotated locations for XP_005264284.1

      UniProtKB/Swiss-Prot
      Q8NDI1
      UniProtKB/TrEMBL
      A0A140VK17
      Conserved Domains (3) summary
      pfam00307
      Location:412508
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10351175
      DUF3585; Protein of unknown function (DUF3585)
    7. XM_011532716.3XP_011531018.1  EH domain-binding protein 1 isoform X2

      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10731209
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
    8. XM_011532717.2XP_011531019.1  EH domain-binding protein 1 isoform X5

      Conserved Domains (3) summary
      pfam00307
      Location:447543
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10331173
      DUF3585; Protein of unknown function (DUF3585)
    9. XM_017003654.2XP_016859143.1  EH domain-binding protein 1 isoform X6

    10. XM_005264226.3XP_005264283.1  EH domain-binding protein 1 isoform X1

      See identical proteins and their annotated locations for XP_005264283.1

      UniProtKB/Swiss-Prot
      Q8NDI1
      Conserved Domains (4) summary
      pfam00307
      Location:447549
      CH; Calponin homology (CH) domain
      pfam10358
      Location:12165
      NT-C2; N-terminal C2 in EEIG1 and EHBP1 proteins
      pfam12130
      Location:10741210
      DUF3585; Protein of unknown function (DUF3585)
      pfam16601
      Location:274383
      NPF; Rabosyn-5 repeating NPF sequence-motif
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