Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23301
Gene name Gene Name - the full gene name approved by the HGNC.
EH domain binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EHBP1
Synonyms (NCBI Gene) Gene synonyms aliases
HPC12, NACSIN
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HPC12
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p15
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs721048 G>A Pathogenic Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049419 hsa-miR-92a-3p qRT-PCR 23622248
MIRT049419 hsa-miR-92a-3p CLASH 23622248
MIRT955324 hsa-miR-140-3p CLIP-seq
MIRT955325 hsa-miR-149 CLIP-seq
MIRT955326 hsa-miR-3064-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005654 Component Nucleoplasm IDA
GO:0005768 Component Endosome IEA
GO:0005815 Component Microtubule organizing center IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609922 29144 ENSG00000115504
Protein
UniProt ID Q8NDI1
Protein name EH domain-binding protein 1
Protein function May play a role in actin reorganization. Links clathrin-mediated endocytosis to the actin cytoskeleton. May act as Rab effector protein and play a role in vesicle trafficking (PubMed:14676205, PubMed:27552051). Required for perinuclear sorting a
PDB 2D89 , 6ZSH , 6ZSI , 6ZSJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10358 NT-C2 12 165 N-terminal C2 in EEIG1 and EHBP1 proteins Domain
PF00307 CH 443 549 Calponin homology (CH) domain Domain
PF12130 DUF3585 1074 1210 Bivalent Mical/EHBP Rab binding domain Domain
Sequence
MASVWKRLQRVGKHASKFQFVASYQELMVECTKKWQPDKLVVVWTRRSRRKSSKAHSWQP
GIKNPYRGVVVWPVPENIEITVTLFKDPHAEEFEDKEWTFVIENESPSGRRKALATSSIN
MKQYASPMPTQTDVKLKFKPLSKKVVSAALQFSLSCIFLREGKAT
DEDMQSLASLMSMKQ
ADIGNLDDFEEDNEDDDENRVNQEEKAAKITEIVNQLNALSSLDEDQDDCIKQANMRSAK
SASSSEELINKLNFLDEAEKDLATVNSNPFDDPDAAELNPFGDPDSEEPITETASPRKTE
DSFYNNSYNPFKEVQTPQYLNPFDEPEAFVTIKDSPPQSTKRKNIRPVDMSKYLYADSSK
TEEEELDESNPFYEPKSTPPPNNLVNPVQELETERRVKRKAPAPPVLSPKTGVLNENTVS
AGKDLSTSPKPSPIPSPVLGRKPNASQSLLVWCKEVTKNYRGVKITNFTTSWRNGLSFCA
ILHHFRPDLIDYKSLNPQDIKENNKKAYDGFASIGISRLLEPSDMVLLAIPDKLTVMTYL
YQIRAHFSG
QELNVVQIEENSSKSTYKVGNYETDTNSSVDQEKFYAELSDLKREPELQQP
ISGAVDFLSQDDSVFVNDSGVGESESEHQTPDDHLSPSTASPYCRRTKSDTEPQKSQQSS
GRTSGSDDPGICSNTDSTQAQVLLGKKRLLKAETLELSDLYVSDKKKDMSPPFICEETDE
QKLQTLDIGSNLEKEKLENSRSLECRSDPESPIKKTSLSPTSKLGYSYSRDLDLAKKKHA
SLRQTESDPDADRTTLNHADHSSKIVQHRLLSRQEELKERARVLLEQARRDAALKAGNKH
NTNTATPFCNRQLSDQQDEERRRQLRERARQLIAEARSGVKMSELPSYGEMAAEKLKERS
KASGDENDNIEIDTNEEIPEGFVVGGGDELTNLENDLDTPEQNSKLVDLKLKKLLEVQPQ
VANSPSSAAQKAVTESSEQDMKSGTEDLRTERLQKTTERFRNPVVFSKDSTVRKTQLQSF
SQYIENRPEMKRQRSIQEDTKKGNEEKAAITETQRKPSEDEVLNKGFKDTSQYVVGELAA
LENEQKQIDTRAALVEKRLRYLMDTGRNTEEEEAMMQEWFMLVNKKNALIRRMNQLSLLE
KEHDLERRYELLNRELRAMLAIEDWQKTEAQKRREQLLLDELVALVNKRDALVRDLDAQE
KQAEEEDEHL
ERTLEQNKGKMAKKEEKCVLQ
Sequence length 1231
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Prostate cancer Malignant neoplasm of prostate, Prostate carcinoma rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 23593118, 18264098, 25939597, 29892016
Prostate cancer, hereditary Prostate Cancer, Hereditary, 12 rs387906327, rs193929331, rs74315365, rs397516896, rs794729219, rs121913349, rs587782641, rs1114167673, rs1597371666, rs2073394466
Unknown
Disease term Disease name Evidence References Source
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Coronary artery disease Coronary artery disease GWAS
Myocardial Infarction Myocardial Infarction GWAS
Frontal Fibrosing Alopecia Frontal Fibrosing Alopecia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 32295536
Cholangiocarcinoma Associate 32897609
Colorectal Neoplasms Associate 40004500
Lung Neoplasms Associate 35717579
Lymphoma Associate 33883344
Lymphoma B Cell Associate 33883344
Neoplasms Associate 26773531
Prostatic Neoplasms Associate 18264098, 19318432, 23593118, 26773531, 32295536, 40004500
Urinary Bladder Neoplasms Associate 37950728