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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
11
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIP1-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 28452374
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26595459
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 30049830
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 29765031 Associate
★☆☆☆☆
Found in Text Mining only
Atrophy of testis Testicular atrophy BEFREE 11604514
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 35627305 Associate
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 23756441 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 17875735
★☆☆☆☆
Found in Text Mining only
BRACHYDACTYLY, TYPE A1 (disorder) Brachydactyly BEFREE 19252479
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30816325
★☆☆☆☆
Found in Text Mining only