AutismKB 2.0

Annotation Details for HAP1


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Basic Information Top
Gene Symbol:HAP1 ( HAP2,HIP5,HLP,hHLP1 )
Gene Full Name: huntingtin-associated protein 1
Band: 17q21.2
Quick LinksEntrez ID:9001; OMIM: 600947; Uniprot ID:HAP1_HUMAN; ENSEMBL ID: ENSG00000173805; HGNC ID: 4812
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005730IDA-nucleolus-
GO:0005739IEA-mitochondrion-
GO:0005764IEA-lysosome-
GO:0005776IEA-autophagosome-
GO:0005783IEA-endoplasmic reticulum-
GO:0005813IEA-centrosome-
GO:0005814IEA-centriole-
GO:0005829IDA-cytosol-
GO:0005856TAS-cytoskeleton9361024
GO:0008021IEA-synaptic vesicle-
GO:0015629TAS-actin cytoskeleton9361024
GO:0016234IDA-inclusion body21386698
GO:0030054IEA-cell junction-
GO:1904115IEA-axon cytoplasm-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding7477378
GO:0044325ISS-ion channel binding-
GO:0048403ISS-brain-derived neurotrophic factor binding-
GO ID Evidence Qualifier GO_term References
GO:0006887IEA-exocytosis-
GO:0006914IEA-autophagy-
GO:0007268TAS-chemical synaptic transmission9361024
GO:0007420NAS-brain development7477378
GO:0008089ISS-anterograde axonal transport-
GO:0008090ISS-retrograde axonal transport-
GO:0008104IMP-protein localization18922795
GO:0015031IEA-protein transport-
GO:0017157ISS-regulation of exocytosis-
GO:0021549IEA-cerebellum development-
GO:0021979IEA-hypothalamus cell differentiation-
GO:0030030IEA-cell projection organization-
GO:0031587ISS-positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity-
GO:0032230ISS-positive regulation of synaptic transmission, GABAergic-
GO:0032901ISS-positive regulation of neurotrophin production-
GO:0045742ISS-positive regulation of epidermal growth factor receptor signaling pathway-
GO:0047496IEA-vesicle transport along microtubule-
GO:0048011ISS-neurotrophin TRK receptor signaling pathway-
GO:0050769IEA-positive regulation of neurogenesis-
GO:1902430ISS-negative regulation of amyloid-beta formation-
GO:1902513ISS-regulation of organelle transport along microtubule-
GO:1902857ISS-positive regulation of non-motile cilium assembly-
GO:2000766IEA-negative regulation of cytoplasmic translation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
HAP1COL9A210769516169070 Two-hybrid
HAP1COL9A211448016169070 Two-hybrid
HAP1CRIP111448016169070 Two-hybrid
HAP1CRIP110778616169070 Two-hybrid
HAP1DCTN11144809361024 9454836 Affinity Capture-Western; Co-fractionation; Reconstituted Complex; Two-hybrid
HAP1DCTN11080079361024 9454836 Affinity Capture-Western; Co-fractionation; Reconstituted Complex; Two-hybrid
HAP1HTT1144807477378 9454836 9668110 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
HAP1HTT1093147477378 9454836 9668110 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
HAP1HMOX211448016169070 Two-hybrid
HAP1HMOX210940616169070 Two-hybrid
HAP1EIF3E10985716169070 Two-hybrid
HAP1EIF3E11448016169070 Two-hybrid
HAP1MPP311448016169070 Two-hybrid
HAP1MPP311049616169070 Two-hybrid
HAP1NDUFB911448016169070 Two-hybrid
HAP1NDUFB911079516169070 Two-hybrid
HAP1NEUROD111448012881483 Affinity Capture-Western; Two-hybrid
HAP1NEUROD111083312881483 Affinity Capture-Western; Two-hybrid
HAP1PCM11144809361024 Two-hybrid
HAP1PCM11111399361024 Two-hybrid
HAP1PFDN111448016169070 Two-hybrid
HAP1PFDN111122316169070 Two-hybrid
HAP1PPID11448016169070 Two-hybrid
HAP1PPID11147716169070 Two-hybrid
HAP1PPOX11448016169070 Two-hybrid
HAP1PPOX11149216169070 Two-hybrid
HAP1PSMD1111448016169070 Two-hybrid
HAP1PSMD1111168916169070 Two-hybrid
HAP1RPS1011448016169070 Two-hybrid
HAP1RPS1011211816169070 Two-hybrid
HAP1RPS2511448016169070 Two-hybrid
HAP1RPS2511214416169070 Two-hybrid
HAP1SRSF411448016169070 Two-hybrid
HAP1SRSF411232716169070 Two-hybrid
HAP1STX511448016169070 Two-hybrid
HAP1STX511268016169070 Two-hybrid
HAP1TNNT311448016169070 Two-hybrid
HAP1TNNT311299416169070 Two-hybrid
HAP1TSPYL111448016169070 Two-hybrid
HAP1TSPYL111311016169070 Two-hybrid
HAP1ZNF2011448016169070 Two-hybrid
HAP1ZNF2011339916169070 Two-hybrid
HAP1ZNF2411448016169070 Two-hybrid
HAP1ZNF2411340316169070 Two-hybrid
HAP1HAP11144809361024 9798945 Affinity Capture-Western; Two-hybrid
HGSHAP111448012021262 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
HGSHAP111459312021262 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PDCD7HAP111448016169070 Two-hybrid
PDCD7HAP111539016169070 Two-hybrid
RER1HAP111448016169070 Two-hybrid
RER1HAP111626216169070 Two-hybrid
SNAPINHAP111448016169070 Two-hybrid
SNAPINHAP111710116169070 Two-hybrid
NIPSNAP3AHAP111448016169070 Two-hybrid
NIPSNAP3AHAP111743216169070 Two-hybrid
NAP1L5HAP111448016169070 Two-hybrid
NAP1L5HAP112934416169070 Two-hybrid
CCDC113HAP111448016169070 Two-hybrid
CCDC113HAP111884316169070 Two-hybrid
GLTSCR2HAP111448016169070 Two-hybrid
GLTSCR2HAP111902116169070 Two-hybrid
ZNF691HAP111448016169070 Two-hybrid
ZNF691HAP111925016169070 Two-hybrid
DDX49HAP111448016169070 Two-hybrid
DDX49HAP112004016169070 Two-hybrid
CDK5RAP2HAP111448016169070 Two-hybrid
CDK5RAP2HAP112087316169070 Two-hybrid
UTP3HAP111448016169070 Two-hybrid
UTP3HAP112134216169070 Two-hybrid
CBX8HAP111448016169070 Two-hybrid
CBX8HAP112148716169070 Two-hybrid
MRPS9HAP111448016169070 Two-hybrid
MRPS9HAP112236016169070 Two-hybrid
C8orf33HAP111448016169070 Two-hybrid
C8orf33HAP112242016169070 Two-hybrid
FAM173AHAP111448016169070 Two-hybrid
FAM173AHAP112243916169070 Two-hybrid
TAF1DHAP111448016169070 Two-hybrid
TAF1DHAP112254816169070 Two-hybrid
C15orf29HAP111448016169070 Two-hybrid
C15orf29HAP112287316169070 Two-hybrid
ATP5J2HAP111448016169070 Two-hybrid
ATP5J2HAP111492316169070 Two-hybrid
TOMM20HAP111448016169070 Two-hybrid
TOMM20HAP111514416169070 Two-hybrid
Gene Symbol Interactant Interaction ID References Description
HAP1HTT2094377477378 Htt interacts with Hap1.
HAP1HTT20930915654337 Htt interacts with HAP1. This interaction was modeled on a demonstrated interaction between human Htt and Rat HAP1.
HAP1HTT1282069668110 Huntingtin interacts with HAP1.
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1261831
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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