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

Gene ID: 23301, updated on 10-Oct-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
109.20190905 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 BAR/IMD domain containing adaptor protein 2 like 1 pseudogene 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 Functions

What'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
actin cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
filamentous actin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
microtubule organizing center IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
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
    5028..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 109.20190905

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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