HAP1 huntingtin associated protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: HAP1provided by HGNC
Official Full Name: huntingtin associated protein 1provided by HGNC
Primary source: HGNC:HGNC:4812
See related: Ensembl:ENSG00000173805 MIM:600947; AllianceGenome:HGNC:4812
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HLP; HAP2; HIP5; hHLP1
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]
Expression: Biased expression in stomach (RPKM 6.7), brain (RPKM 3.4) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (41717739..41734646, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (42574186..42591171, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (39873991..39890898, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Huntingtin-associated protein 1 is a potential tumor suppressor for gastric cancer.
Title: Huntingtin-associated protein 1 is a potential tumor suppressor for gastric cancer.
Differential expression and roles of Huntingtin and Huntingtin-associated protein 1 in the mouse and primate brains.
Title: Differential expression and roles of Huntingtin and Huntingtin-associated protein 1 in the mouse and primate brains.
Efficient and crucial quality control of HAP1 cell ploidy status.
Title: Efficient and crucial quality control of HAP1 cell ploidy status.
Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway.
Title: Sequential dynein effectors regulate axonal autophagosome motility in a maturation-dependent pathway.
The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
Title: The adaptor proteins HAP1a and GRIP1 collaborate to activate the kinesin-1 isoform KIF5C.
Acute lymphoblastic leukemia patient leukemic cells with reduced HAP1 levels exhibit resistance to l-asparaginase.
Title: HAP1 loss confers l-asparaginase resistance in ALL by downregulating the calpain-1-Bid-caspase-3/12 pathway.
HAP1 is differentially expressed in the human gastrointestinal tract and is down-regulated in pancreatic adenocarcinoma.
Title: Expression and Localization of Huntingtin-Associated Protein 1 (HAP1) in the Human Digestive System.
HAP1 is expressed in endocrine cells of the human gut.
Title: Huntingtin-associated protein 1: Eutherian adaptation from a TRAK-like protein, conserved gene promoter elements, and localization in the human intestine.
data fully support that HAP1 is a GKAP, anchoring specifically to the cGMP-dependent protein kinase isoform Ibeta, and provide further evidence that also PKG spatiotemporal signaling is largely controlled by anchoring proteins
Title: Huntingtin-associated protein 1 (HAP1) is a cGMP-dependent kinase anchoring protein (GKAP) specific for the cGMP-dependent protein kinase Iβ isoform.
The -141 T > G polymorphism, but not the 1349 T > G polymorphism, may have protective effects for lung cancer.
Title: Evaluating the association of polymorphisms in the HAP1 gene with lung cancer risk: a meta-analysis.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of huntingtin-associated protein 1 (HAP1) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

G38154 (e-PCR)
- UniSTS:53341

RH80030 (e-PCR)
- UniSTS:87680

D16S325 (e-PCR)
- UniSTS:147089

G63531 (e-PCR)
- UniSTS:140493

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables brain-derived neurotrophic factor binding	ISS Inferred from Sequence or Structural Similarity more info
enables myosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane transporter binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in anterograde axonal transport of mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in brain development	NAS Non-traceable Author Statement more info	PubMed
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cerebellum development	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in exocytosis	IEA Inferred from Electronic Annotation more info
involved_in hypothalamus cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mitochondrion distribution	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of amyloid-beta formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in neurogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotrophin TRK receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurotrophin TRK receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurotrophin production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of non-motile cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of synaptic transmission, GABAergic	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein targeting	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation more info
involved_in regulation of exocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of organelle transport along microtubule	ISS Inferred from Sequence or Structural Similarity more info
involved_in retrograde axonal transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in vesicle transport along microtubule	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in actin cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in autophagosome	IEA Inferred from Electronic Annotation more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasmic vesicle	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	IEA Inferred from Electronic Annotation more info
located_in early endosome	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
located_in inclusion body	IDA Inferred from Direct Assay more info	PubMed
located_in lysosome	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in synaptic vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: huntingtin-associated protein 1

Names: HAP-1; epididymis secretory sperm binding protein; huntingtin-associated protein 2; neuroan 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001079870.1 → NP_001073339.1 huntingtin-associated protein 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site the 5' coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. The encoded isoform (3) is shorter than isoform 2.

Source sequence(s)

AC109319, AF040723, AK022007, CB128405, DA203084, DA231862

Consensus CDS

CCDS42338.1

UniProtKB/TrEMBL

A0A384NYX4

Related

ENSP00000343170.5, ENST00000341193.9

Conserved Domains (2) summary

pfam04849
Location:109 → 442

HAP1_N; HAP1 N-terminal conserved region

cl09930
Location:309 → 401

RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
NM_001079871.1 → NP_001073340.1 huntingtin-associated protein 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 3' coding region, compared to variant 2, and encodes an isoform (4) that is shorter than isoform 2.

Source sequence(s)

AC109319, AF040723, AK022007, CB128405, DA203084, DA231862

Consensus CDS

CCDS42339.1

UniProtKB/TrEMBL

A0A384NYX4

Related

ENSP00000377513.2, ENST00000393939.6

Conserved Domains (2) summary

pfam04849
Location:109 → 434

HAP1_N; HAP1 N-terminal conserved region

cl09930
Location:301 → 393

RPA_2b-aaRSs_OBF_like; Replication protein A, class 2b aminoacyl-tRNA synthetases, and related proteins with oligonucleotide/oligosaccharide (OB) fold.
NM_001367459.1 → NP_001354388.1 huntingtin-associated protein 1 isoform 5

Status: REVIEWED

Source sequence(s)

AC109319

UniProtKB/TrEMBL

A0A384NYX4
NM_001367460.1 → NP_001354389.1 huntingtin-associated protein 1 isoform 6

Status: REVIEWED

Source sequence(s)

AC109319

UniProtKB/Swiss-Prot

A8MQB5, O75358, P54257, Q59GK4, Q9H4G3, Q9HA98, Q9NY90
NM_001367461.1 → NP_001354390.1 huntingtin-associated protein 1 isoform 7

Status: REVIEWED

Source sequence(s)

AC109319

UniProtKB/TrEMBL

A0A384NYX4
NM_001367462.1 → NP_001354391.1 huntingtin-associated protein 1 isoform 8

Status: REVIEWED

Source sequence(s)

AC109319
NM_177977.3 → NP_817084.2 huntingtin-associated protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) encodes isoform 2.

Source sequence(s)

AC109319, AF040723, AK022007, CB128405, DA203084, DA231862, DA242226

Consensus CDS

CCDS11406.1

UniProtKB/TrEMBL

A0A384NYX4

Related

ENSP00000334002.4, ENST00000347901.9

Conserved Domains (2) summary

pfam04849
Location:109 → 439

HAP1_N; HAP1 N-terminal conserved region

pfam15908
Location:302 → 426

HMMR_C; Hyaluronan mediated motility receptor C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

41717739..41734646 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

42574186..42591171 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_003949.3: Suppressed sequence

Description

NM_003949.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.