HAP1

GENERAL INFORMATION

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Gene name

HAP1

Gene description

Huntingtin-associated protein 1

Protein class

Cytoskeleton related proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (stomach)
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Moderate cytoplasmic positivity was observed in most normal tissues. The gastrointestinal tract, exocrine pancreas, placental, airway epithelium, gall bladder and subsets of urothelial cells were strongly stained. Lymphoid tissues were weakly stained or negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA023394
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (stomach)

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

9001

UniProt

P54257 (UniProt - Evidence at protein level)

neXtProt

NX_P54257

Antibodypedia

HAP1 antibodies


PROTEIN BROWSER

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ENST00000310778
 
ENST00000341193
 
ENST00000347901
 
ENST00000393939
 
ENST00000442364
 
ENST00000455021
 
ENST00000458656
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

HAP1-001 ENSP00000334002
ENST00000347901
P54257
Show all »
Show » Show » 619 69.6 No 0
HAP1-002 ENSP00000343170
ENST00000341193
P54257
Show all »
Show » Show » 602 67.6 No 0
HAP1-003 ENSP00000388981
ENST00000442364
H7BZC9
Show all »
Show » 73 8.7 No 0
HAP1-004 ENSP00000404640
ENST00000458656
H7C295
Show all »
Show » 111 12.7 No 0
HAP1-005 ENSP00000397242
ENST00000455021
Show » 40 4.4 No 0
HAP1-006 ENSP00000309392
ENST00000310778
P54257
Show all »
Show » Show » 671 75.5 No 0
HAP1-007 ENSP00000377513
ENST00000393939
P54257
Show all »
Show » Show » 594 66.7 No 0