Gene Gene information from NCBI Gene database.
Entrez ID 3092
Gene name Huntingtin interacting protein 1
Gene symbol HIP1
Synonyms (NCBI Gene)
HIP-IILWEQSHONSHONbetaSHONgamma
Chromosome 7
Chromosome location 7q11.23
Summary 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.
1147
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
TFAP2A Unknown 11517213
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
76
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
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, 25416956, 31515488, 32296183, 32814053, 33961781
GO:0005543 Function Phospholipid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601767 4913 ENSG00000127946
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
26
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HIP1-related disorder Benign; Likely benign rs117129747, rs114903798, rs372524247, rs111778729, rs237238, rs61737122, rs150253964, rs1167794, rs201975785, rs202080673, rs145864307, rs1332959578, rs1167801, rs144294774, rs140984634
View all (7 more)
RCV003977558
RCV003919722
RCV003924026
RCV003974312
RCV003974327
RCV003909738
RCV003924627
RCV003972057
RCV003927122
RCV003921943
RCV003932178
RCV003954339
RCV003976613
RCV003960599
RCV003978253
RCV003906062
RCV003953327
RCV003975663
RCV003923032
RCV003902893
RCV003962882
RCV003916035
Lung cancer Benign rs148290305 RCV005910553
Ovarian serous cystadenocarcinoma Benign rs114903798 RCV005938640
Uterine corpus endometrial carcinoma Uncertain significance; Benign rs201845637, rs148290305 RCV005937514
RCV005910554
Associations from Text MiningDisease associations identified through Pubtator
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