HAP1 - huntingtin associated protein 1 Gene

Also Known as HLP; HAP2; HIP5; hHLP1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9001

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
7477378 GOA
Biological Process GO Annotation Evidence References Source
involved in protein localization IMP
IMP: Inferred from mutant phenotype
18922795 GOA
Cellular Component GO Annotation Evidence References 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 References
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

HAP1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P89784 HAP1 Antibody (YA9128) WB, ICC/IF, IF-Tissue, IP, ELISA human

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

Pre-clinical Phase

Bioactive Molecules (13)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-170316 Ibetazol Inhibitor 99.80% Unkown
HY-150221 DB008 Inhibitor 98.47% Unkown
HY-153119 TMX-4153 Degrader 98.96% Unkown
HY-180573 ART5537 Inhibitor 99.84% Unkown
HY-174866 BT-O2C Inhibitor 99.31% Unkown
HY-RS00815 APEX1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-P4096 HAP-1 99.08% Unkown
HY-173281 MAT2A-IN-24 Inhibitor / Unkown
HY-174296 TMX-4102 / Unkown
HY-RS06000 HAP1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17886 Hap1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21480 Apex1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24355 Hap1 Rat Pre-designed siRNA Set A Pre-designed Set / 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