Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3092
Gene name Gene Name - the full gene name approved by the HGNC.
Huntingtin interacting protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HIP1
Synonyms (NCBI Gene) Gene synonyms aliases
HIP-I, ILWEQ, SHON, SHONbeta, SHONgamma
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q11.23
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene is a membrane-associated protein that functions in clathrin-mediated endocytosis and protein trafficking within the cell. The encoded protein binds to the huntingtin protein in the brain; this interaction is lost in Huntington`s d
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT634645 hsa-miR-512-3p HITS-CLIP 23313552
MIRT634644 hsa-miR-520g-3p HITS-CLIP 23313552
MIRT634643 hsa-miR-520h HITS-CLIP 23313552
MIRT634642 hsa-miR-186-3p HITS-CLIP 23313552
MIRT634640 hsa-miR-6801-3p HITS-CLIP 23313552
Transcription factors
Transcription factor Regulation Reference
TFAP2A Unknown 11517213
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005154 Function Epidermal growth factor receptor binding TAS 20074057
GO:0005200 Function Structural constituent of cytoskeleton TAS 9140394
GO:0005515 Function Protein binding IPI 9140394, 11788820, 11889126, 15383276, 16027218, 16979168, 17500595, 17762867, 22835334, 25241761, 25416956, 26496610, 31515488, 32296183, 32814053
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IDA 14732715
GO:0005634 Component Nucleus TAS 20074057
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601767 4913 ENSG00000127946
Protein
UniProt ID O00291
Protein name Huntingtin-interacting protein 1 (HIP-1) (Huntingtin-interacting protein I) (HIP-I)
Protein function Plays a role in clathrin-mediated endocytosis and trafficking (PubMed:11532990, PubMed:11577110, PubMed:11889126). Involved in regulating AMPA receptor trafficking in the central nervous system in an NMDA-dependent manner (By similarity). Regula
PDB 2NO2 , 2QA7 , 3I00
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07651 ANTH 39 308 ANTH domain Domain
PF16515 HIP1_clath_bdg 482 580 Clathrin-binding domain of Huntingtin-interacting protein 1 Coiled-coil
PF01608 I_LWEQ 862 1010 I/LWEQ domain Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with the highest level in brain. Expression is up-regulated in prostate and colon cancer. {ECO:0000269|PubMed:12163454, ECO:0000269|PubMed:9140394, ECO:0000269|PubMed:9147654}.
Sequence
MDRMASSMKQVPNPLPKVLSRRGVGAGLEAAERESFERTQTVSINKAINTQEVAVKEKHA
RTCILGTHHEKGAQTFWSVVNRLPLSSNAVLCWKFCHVFHKLLRDGHPNVLKDSLRYRNE
LSDMSRMWGHLSEGYGQLCSIYLKLLRTKMEYHTKNPRFPGNLQMSDRQLDEAGESDVNN
FFQLTVEMFDYLECELNLFQTVFNSLDMSRSVSVTAAGQCRLAPLIQVILDCSHLYDYTV
KLLFKLHSCLPADTLQGHRDRFMEQFTKLKDLFYRSSNLQYFKRLIQIPQLPENPPNFLR
ASALSEHI
SPVVVIPAEASSPDSEPVLEKDDLMDMDASQQNLFDNKFDDIFGSSFSSDPF
NFNSQNGVNKDEKDHLIERLYREISGLKAQLENMKTESQRVVLQLKGHVSELEADLAEQQ
HLRQQAADDCEFLRAELDELRRQREDTEKAQRSLSEIERKAQANEQRYSKLKEKYSELVQ
NHADLLRKNAEVTKQVSMARQAQVDLEREKKELEDSLERISDQGQRKTQEQLEVLESLKQ
ELATSQRELQVLQGSLETSAQSEANWAAEFAELEKERDSL
VSGAAHREEELSALRKELQD
TQLKLASTEESMCQLAKDQRKMLLVGSRKAAEQVIQDALNQLEEPPLISCAGSADHLLST
VTSISSCIEQLEKSWSQYLACPEDISGLLHSITLLAHLTSDAIAHGATTCLRAPPEPADS
LTEACKQYGRETLAYLASLEEEGSLENADSTAMRNCLSKIKAIGEELLPRGLDIKQEELG
DLVDKEMAATSAAIETATARIEEMLSKSRAGDTGVKLEVNERILGCCTSLMQAIQVLIVA
SKDLQREIVESGRGTASPKEFYAKNSRWTEGLISASKAVGWGATVMVDAADLVVQGRGKF
EELMVCSHEIAASTAQLVAASKVKADKDSPNLAQLQQASRGVNQATAGVVASTISGKSQI
EETDNMDFSSMTLTQIKRQEMDSQVRVLELENELQKERQKLGELRKKHYE
LAGVAEGWEE
GTEASPPTLQEVVTEKE
Sequence length 1037
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Huntington disease
Pathways of neurodegeneration - multiple diseases
  Clathrin-mediated endocytosis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Systemic lupus erythematosus Systemic lupus erythematosus GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Tremor Tremor GWAS
Psoriasis Psoriasis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 24518094, 25567908, 34941039
Arthritis Rheumatoid Associate 29765031
Autism Spectrum Disorder Associate 35627305
Autistic Disorder Associate 23756441
Breast Neoplasms Associate 30816325
Carcinogenesis Associate 24518094, 29039605
Carcinoma Basal Cell Associate 19549769
Carcinoma Hepatocellular Inhibit 16397407
Carcinoma Non Small Cell Lung Associate 25393796
Coronary Disease Associate 28843344