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HAP1

GENERAL INFORMATION

Gene name

 HAP1

Gene description

 Huntingtin-associated protein 1

Protein class

 Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (cerebral cortex, stomach)
GTEx:Tissue enhanced (hypothalamus)
FANTOM5:Tissue enhanced (caudate, hippocampus, pituitary gland)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues, including CNS.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA023394
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebral cortex, stomach)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (hypothalamus)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (caudate, hippocampus, pituitary gland)

GENE INFORMATION

Gene name

 HAP1 (HGNC Symbol)

Synonyms

 HAP2, hHLP1, HIP5, HLP

Description

 Huntingtin-associated protein 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

 17

Cytoband

 q21.2

Chromosome location (bp)

 41717742 - 41734644

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000173805 (version 83.38)

Entrez gene

 9001

UniProt

 P54257 (UniProt - Evidence at protein level)

neXtProt

 NX_P54257

Antibodypedia

 HAP1 antibodies

PROTEIN BROWSER
HAP1-001
HAP1-002
HAP1-003
HAP1-004
HAP1-005
HAP1-006
HAP1-007

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
HAP1-001
ENSP00000334002
ENST00000347901
P54257 [Direct mapping]
Huntingtin-associated protein 1
Show all
Predicted intracellular proteins
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GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005764 [lysosome]
GO:0005776 [autophagosome]
GO:0005783 [endoplasmic reticulum]
GO:0005813 [centrosome]
GO:0005814 [centriole]
GO:0005856 [cytoskeleton]
GO:0006887 [exocytosis]
GO:0006914 [autophagy]
GO:0007268 [synaptic transmission]
GO:0007420 [brain development]
GO:0008021 [synaptic vesicle]
GO:0008089 [anterograde axon cargo transport]
GO:0008090 [retrograde axon cargo transport]
GO:0008104 [protein localization]
GO:0015031 [protein transport]
GO:0015629 [actin cytoskeleton]
GO:0016023 [cytoplasmic membrane-bounded vesicle]
GO:0016234 [inclusion body]
GO:0017157 [regulation of exocytosis]
GO:0021549 [cerebellum development]
GO:0021979 [hypothalamus cell differentiation]
GO:0022008 [neurogenesis]
GO:0030030 [cell projection organization]
GO:0030054 [cell junction]
GO:0030424 [axon]
GO:0031587 [positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity]
GO:0032230 [positive regulation of synaptic transmission, GABAergic]
GO:0032901 [positive regulation of neurotrophin production]
GO:0044325 [ion channel binding]
GO:0045742 [positive regulation of epidermal growth factor receptor signaling pathway]
GO:0047496 [vesicle transport along microtubule]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048403 [brain-derived neurotrophic factor binding]
GO:0050769 [positive regulation of neurogenesis]
GO:1902430 [negative regulation of beta-amyloid formation]
GO:1902513 [regulation of organelle transport along microtubule]
GO:1902857 [positive regulation of nonmotile primary cilium assembly]
GO:2000766 [negative regulation of cytoplasmic translation]
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 619 aa
69.6 kDa 		No 0
HAP1-002
ENSP00000343170
ENST00000341193
P54257 [Direct mapping]
Huntingtin-associated protein 1
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   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005764 [lysosome]
GO:0005776 [autophagosome]
GO:0005783 [endoplasmic reticulum]
GO:0005856 [cytoskeleton]
GO:0006887 [exocytosis]
GO:0006914 [autophagy]
GO:0007268 [synaptic transmission]
GO:0007420 [brain development]
GO:0008021 [synaptic vesicle]
GO:0008089 [anterograde axon cargo transport]
GO:0008090 [retrograde axon cargo transport]
GO:0008104 [protein localization]
GO:0015031 [protein transport]
GO:0015629 [actin cytoskeleton]
GO:0016234 [inclusion body]
GO:0017157 [regulation of exocytosis]
GO:0030030 [cell projection organization]
GO:0030054 [cell junction]
GO:0030424 [axon]
GO:0031587 [positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity]
GO:0032230 [positive regulation of synaptic transmission, GABAergic]
GO:0032901 [positive regulation of neurotrophin production]
GO:0044325 [ion channel binding]
GO:0045742 [positive regulation of epidermal growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048403 [brain-derived neurotrophic factor binding]
GO:1902430 [negative regulation of beta-amyloid formation]
GO:1902513 [regulation of organelle transport along microtubule]
GO:1902857 [positive regulation of nonmotile primary cilium assembly]
Show all
 602 aa
67.6 kDa 		No 0
HAP1-003
ENSP00000388981
ENST00000442364
H7BZC9 [Direct mapping]
Huntingtin-associated protein 1
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Predicted intracellular proteins
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 73 aa
8.7 kDa 		No 0
HAP1-004
ENSP00000404640
ENST00000458656
H7C295 [Direct mapping]
Huntingtin-associated protein 1
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Predicted intracellular proteins
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 111 aa
12.7 kDa 		No 0
HAP1-005
ENSP00000397242
ENST00000455021
H7C0W9 [Direct mapping]
Huntingtin-associated protein 1
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Predicted intracellular proteins
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 40 aa
4.4 kDa 		No 0
HAP1-006
ENSP00000309392
ENST00000310778
P54257 [Direct mapping]
Huntingtin-associated protein 1
Show all
Predicted intracellular proteins
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005764 [lysosome]
GO:0005776 [autophagosome]
GO:0005783 [endoplasmic reticulum]
GO:0005856 [cytoskeleton]
GO:0006887 [exocytosis]
GO:0006914 [autophagy]
GO:0007268 [synaptic transmission]
GO:0007420 [brain development]
GO:0008021 [synaptic vesicle]
GO:0008089 [anterograde axon cargo transport]
GO:0008090 [retrograde axon cargo transport]
GO:0008104 [protein localization]
GO:0015031 [protein transport]
GO:0015629 [actin cytoskeleton]
GO:0016234 [inclusion body]
GO:0017157 [regulation of exocytosis]
GO:0030030 [cell projection organization]
GO:0030054 [cell junction]
GO:0030424 [axon]
GO:0031587 [positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity]
GO:0032230 [positive regulation of synaptic transmission, GABAergic]
GO:0032901 [positive regulation of neurotrophin production]
GO:0044325 [ion channel binding]
GO:0045742 [positive regulation of epidermal growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048403 [brain-derived neurotrophic factor binding]
GO:1902430 [negative regulation of beta-amyloid formation]
GO:1902513 [regulation of organelle transport along microtubule]
GO:1902857 [positive regulation of nonmotile primary cilium assembly]
Show all
 671 aa
75.5 kDa 		No 0
HAP1-007
ENSP00000377513
ENST00000393939
P54257 [Direct mapping]
Huntingtin-associated protein 1
Show all
Predicted intracellular proteins
Show all
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005739 [mitochondrion]
GO:0005764 [lysosome]
GO:0005776 [autophagosome]
GO:0005783 [endoplasmic reticulum]
GO:0005856 [cytoskeleton]
GO:0006887 [exocytosis]
GO:0006914 [autophagy]
GO:0007268 [synaptic transmission]
GO:0007420 [brain development]
GO:0008021 [synaptic vesicle]
GO:0008089 [anterograde axon cargo transport]
GO:0008090 [retrograde axon cargo transport]
GO:0008104 [protein localization]
GO:0015031 [protein transport]
GO:0015629 [actin cytoskeleton]
GO:0016234 [inclusion body]
GO:0017157 [regulation of exocytosis]
GO:0030030 [cell projection organization]
GO:0030054 [cell junction]
GO:0030424 [axon]
GO:0031587 [positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity]
GO:0032230 [positive regulation of synaptic transmission, GABAergic]
GO:0032901 [positive regulation of neurotrophin production]
GO:0044325 [ion channel binding]
GO:0045742 [positive regulation of epidermal growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048403 [brain-derived neurotrophic factor binding]
GO:1902430 [negative regulation of beta-amyloid formation]
GO:1902513 [regulation of organelle transport along microtubule]
GO:1902857 [positive regulation of nonmotile primary cilium assembly]
Show all
 594 aa
66.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.