Seroatlas · Human Serome Atlas

HIP1

Huntingtin-interacting protein 1

Also known as: HIP1_HUMAN, ILWEQ

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O00291
Gene
HIP1
Ensembl
ENSG00000127946
Chromosome
7
Canonical length
1037 aa
Protein class
Cancer-related genes, Disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Vesicles,Acrosome,Mid piece,Principal piece
Quaternary structure
Homodimer

OverviewNCBI 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 disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Canonical amino-acid sequenceUniProt

1037 residues, UniProt reviewed canonical sequence.

>O00291|HIP1
     1  MDRMASSMKQ VPNPLPKVLS RRGVGAGLEA AERESFERTQ TVSINKAINT QEVAVKEKHA
    61  RTCILGTHHE KGAQTFWSVV NRLPLSSNAV LCWKFCHVFH KLLRDGHPNV LKDSLRYRNE
   121  LSDMSRMWGH LSEGYGQLCS IYLKLLRTKM EYHTKNPRFP GNLQMSDRQL DEAGESDVNN
   181  FFQLTVEMFD YLECELNLFQ TVFNSLDMSR SVSVTAAGQC RLAPLIQVIL DCSHLYDYTV
   241  KLLFKLHSCL PADTLQGHRD RFMEQFTKLK DLFYRSSNLQ YFKRLIQIPQ LPENPPNFLR
   301  ASALSEHISP VVVIPAEASS PDSEPVLEKD DLMDMDASQQ NLFDNKFDDI FGSSFSSDPF
   361  NFNSQNGVNK DEKDHLIERL YREISGLKAQ LENMKTESQR VVLQLKGHVS ELEADLAEQQ
   421  HLRQQAADDC EFLRAELDEL RRQREDTEKA QRSLSEIERK AQANEQRYSK LKEKYSELVQ
   481  NHADLLRKNA EVTKQVSMAR QAQVDLEREK KELEDSLERI SDQGQRKTQE QLEVLESLKQ
   541  ELATSQRELQ VLQGSLETSA QSEANWAAEF AELEKERDSL VSGAAHREEE LSALRKELQD
   601  TQLKLASTEE SMCQLAKDQR KMLLVGSRKA AEQVIQDALN QLEEPPLISC AGSADHLLST
   661  VTSISSCIEQ LEKSWSQYLA CPEDISGLLH SITLLAHLTS DAIAHGATTC LRAPPEPADS
   721  LTEACKQYGR ETLAYLASLE EEGSLENADS TAMRNCLSKI KAIGEELLPR GLDIKQEELG
   781  DLVDKEMAAT SAAIETATAR IEEMLSKSRA GDTGVKLEVN ERILGCCTSL MQAIQVLIVA
   841  SKDLQREIVE SGRGTASPKE FYAKNSRWTE GLISASKAVG WGATVMVDAA DLVVQGRGKF
   901  EELMVCSHEI AASTAQLVAA SKVKADKDSP NLAQLQQASR GVNQATAGVV ASTISGKSQI
   961  EETDNMDFSS MTLTQIKRQE MDSQVRVLEL ENELQKERQK LGELRKKHYE LAGVAEGWEE
  1021  GTEASPPTLQ EVVTEKE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HIP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
29 nTPM

Expression across tissuesHPA

Tissue

  • testis: 29 nTPM
  • blood vessel: 26 nTPM
  • spinal cord: 24 nTPM
  • placenta: 19 nTPM
  • lung: 18 nTPM
  • cerebral cortex: 17 nTPM

Single-cell type

  • late spermatids: 2,446 nCPM
  • loop of henle epithelial cells: 870 nCPM
  • oligodendrocyte progenitor cells: 546 nCPM
  • renal collecting duct principal cells: 537 nCPM
  • distal convoluted tubule cells: 532 nCPM
  • oligodendrocytes: 516 nCPM

Immune cell

  • basophil: 9.6 nTPM
  • eosinophil: 6.9 nTPM
  • neutrophil: 6.8 nTPM
  • plasmacytoid DC: 3.3 nTPM
  • NK-cell: 3 nTPM
  • T-reg: 1.4 nTPM

Brain region

  • white matter: 99 nTPM
  • basal ganglia: 76 nTPM
  • midbrain: 70 nTPM
  • medulla oblongata: 69 nTPM
  • thalamus: 69 nTPM
  • cerebral cortex: 65 nTPM

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.33
gnomAD pLI
0.76
gnomAD missense Z
2.27
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of HIP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HIP1 as an antibody target. Whether an autoantibody or antibody against HIP1 could matter depends on whether native HIP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HIP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label HIP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/HIP1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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