2. Gene
  3. HAP1 - huntingtin associated protein 1 Gene

HAP1 - huntingtin associated protein 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as HLP; HAP2; HIP5; hHLP1

Gene ID: 9001 | Gene type: protein coding

About HAP1

Cytogenetic location: 17q21.2 Genomic coordinates (GRCh38): 17:41,717,739-41,734,646 (from NCBI)

This gene has 7 transcripts (splice variants), 168 orthologues and 2 paralogues. Biased expression in stomach (RPKM 6.7), brain (RPKM 3.4) and 9 other tissues.

Summary

Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein Huntingtin. This gene encodes a protein that interacts with Huntingtin, with two cytoskeletal proteins (dynactin and pericentriolar autoantigen protein 1), and with a hepatocyte growth factor-regulated tyrosine kinase substrate. The interactions with cytoskeletal proteins and a kinase substrate suggest a role for this protein in vesicular trafficking or organelle transport. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

HAP1 Products(7)

mRNA Protein Name
NM_001079870.1 NP_001073339.1 huntingtin-associated protein 1 isoform 3
NM_001079871.1 NP_001073340.1 huntingtin-associated protein 1 isoform 4
NM_001367459.1 NP_001354388.1 huntingtin-associated protein 1 isoform 5
NM_001367460.1 NP_001354389.1 huntingtin-associated protein 1 isoform 6
NM_001367461.1 NP_001354390.1 huntingtin-associated protein 1 isoform 7
NM_001367462.1 NP_001354391.1 huntingtin-associated protein 1 isoform 8
NM_177977.3 NP_817084.2 huntingtin-associated protein 1 isoform 2
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
7477378 GOA
Biological Process GO Annotation Evidence Reference Source
involved in protein localization IMP
IMP: Inferred from mutant phenotype
18922795 GOA
Cellular Component GO Annotation Evidence Reference Source
located in inclusion body IDA
IDA: Inferred from direct assay
21386698 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HAP1 Protein Structure

HAP1_N

HAP1_N: HAP1 N-terminal conserved region (108 - 460)

  • 0
  • 200
  • 400
  • 600
  • 671 a.a.
Protein Preferred Names Protein Names

huntingtin-associated protein 1

HAP-1

HAP1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
HAP1 P54257 ZNF572 Homo sapiens Q7Z3I7
Validated Y2H
32296183
Intra
HAP1 P54257 AHI1 Homo sapiens Q8N157
Y2H
23532844
Intra
HAP1 P54257 CCDC13 Homo sapiens Q8IYE1
Validated Y2H
32296183
Intra
HAP1 P54257 HDAC4 Homo sapiens P56524-2
Validated Y2H
32296183
Intra
HAP1 P54257 ZNF648 Homo sapiens Q5T619
Validated Y2H
32296183
Intra
HAP1 P54257 AEN Homo sapiens Q8WTP8-2
Validated Y2H
32296183
Intra
HAP1 P54257 ZNF575 Homo sapiens Q86XF7
Validated Y2H
32296183
Intra
HAP1 P54257 PRPF31 Homo sapiens Q8WWY3
Validated Y2H
32296183
Intra
HAP1 P54257 ZFP1 Homo sapiens Q6P2D0
Validated Y2H
32296183
Intra
HAP1 P54257 ZNF124 Homo sapiens Q15973
Validated Y2H
32296183
Intra
HAP1 P54257 PPP1R18 Homo sapiens Q6NYC8
Validated Y2H
32296183
Intra
HAP1 P54257 ZMAT2 Homo sapiens Q96NC0
Validated Y2H
32296183
Intra
HAP1 P54257 ZNF835 Homo sapiens Q9Y2P0
Validated Y2H
32296183
Intra
HAP1 P54257 PKN1 Homo sapiens Q16512
Validated Y2H
32296183
Intra
HAP1 P54257 GABARAPL2 Homo sapiens P60520
Validated Y2H
32296183
Intra
HAP1 P54257 C2CD6 Homo sapiens Q53TS8
Validated Y2H
32296183
Intra
HAP1 P54257 FAM50B Homo sapiens Q9Y247
Validated Y2H
32296183
Intra
HAP1 P54257 CDK18 Homo sapiens Q07002
Validated Y2H
32296183
Intra
HAP1 P54257 RHPN1 Homo sapiens Q8TCX5
Validated Y2H
32296183
Intra
HAP1 P54257 C1orf216 Homo sapiens Q8TAB5
Validated Y2H
32296183
Intra
HAP1 P54257 SCNM1 Homo sapiens Q9BWG6
Validated Y2H
32296183
Intra
HAP1 P54257 ATXN3 Homo sapiens P54252-1
Anti Tag CoIP
21386698
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
Spinocerebellar Ataxia 17

Spinocerebellar Ataxia Type 17

SCA17

Huntington Disease-Like 4

Hdl4

Olivopontocerebellar Atrophy V

Cerebelloparenchymal Disorder Ii

Opca5

Cpd2

Sca 17

Ataxia, Spinocerebellar, Type 17
Cyclosporiasis

Cyclosporosis

Cyclospora Infection
Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis

Fhl

Familial Erythrophagocytic Lymphohistiocytosis

Hemophagocytic Syndrome

FHL1

Hplh1

Hlh1

Fel

Familial Hemophagocytic Lymphohistiocytosis 1

Primary Hemophagocytic Lymphohistiocytosis

Familial Hlh

Hlh

Familial Hemophagocytic Lymphocytosis

Hemophagocytic Lymphohistiocytosis, Familial

Reticulosis, Familial Histiocytic

Hemophagocytic Reticulosis, Familial

Erythrophagocytic Lymphohistiocytosis, Familial

Familial Histiocytic Reticulosis

Familial Hemophagocytic Histiocytosis

Familial Hemophagocytic Reticulosis

Fhlh

Hplh

Primary Hemophagocytic Hymphohistiocytosis

Genetic Hemophagocytic Lymphohistiocytosis

Hemophagocytic Lymphohistiocytosis

Familial Hemophagocytic Lymphohistiocytosis Type 1
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (3)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-150221 DB008 Inhibitor 98.78% Unkown
HY-P4096 HAP-1 99.08% Unkown
HY-RS06000 HAP1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus HAP1 RGD RGD:68327
Canis familiaris HAP1 VGNC VGNC:41592
Mus musculus HAP1 MGD MGI:1261831
Bos taurus HAP1 VGNC VGNC:107270
Others HAP1 NCBI