HAP1 | ENSG00000173805 | NCBI 9001

Details for: HAP1

Gene ID: 9001

Symbol: HAP1

Ensembl ID: ENSG00000173805

Description: huntingtin associated protein 1

Associated with

Actin cytoskeleton
(GO:0015629)
Anterograde axonal transport
(GO:0008089)
Anterograde axonal transport of mitochondrion
(GO:0098957)
Autophagosome
(GO:0005776)
Autophagy
(GO:0006914)
Axon cytoplasm
(GO:1904115)
Brain-derived neurotrophic factor binding
(GO:0048403)
Brain development
(GO:0007420)
Cell projection organization
(GO:0030030)
Centriole
(GO:0005814)
Centrosome
(GO:0005813)
Cerebellum development
(GO:0021549)
Chemical synaptic transmission
(GO:0007268)
Cytoplasmic vesicle
(GO:0031410)
Cytoskeleton
(GO:0005856)
Cytosol
(GO:0005829)
Dendrite
(GO:0030425)
Dendritic spine
(GO:0043197)
Early endosome
(GO:0005769)
Endoplasmic reticulum
(GO:0005783)
Exocytosis
(GO:0006887)
Growth cone
(GO:0030426)
Hypothalamus cell differentiation
(GO:0021979)
Inclusion body
(GO:0016234)
Lysosome
(GO:0005764)
Mitochondrion
(GO:0005739)
Mitochondrion distribution
(GO:0048311)
Myosin binding
(GO:0017022)
Negative regulation of amyloid-beta formation
(GO:1902430)
Neurogenesis
(GO:0022008)
Neurotrophin trk receptor signaling pathway
(GO:0048011)
Nucleolus
(GO:0005730)
Positive regulation of epidermal growth factor receptor signaling pathway
(GO:0045742)
Positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
(GO:0031587)
Positive regulation of neurogenesis
(GO:0050769)
Positive regulation of neurotrophin production
(GO:0032901)
Positive regulation of non-motile cilium assembly
(GO:1902857)
Positive regulation of synaptic transmission, gabaergic
(GO:0032230)
Protein binding
(GO:0005515)
Protein localization
(GO:0008104)
Protein targeting
(GO:0006605)
Protein transport
(GO:0015031)
Regulation of exocytosis
(GO:0017157)
Regulation of organelle transport along microtubule
(GO:1902513)
Retrograde axonal transport
(GO:0008090)
Signaling receptor binding
(GO:0005102)
Synaptic vesicle
(GO:0008021)
Transmembrane transporter binding
(GO:0044325)
Vesicle transport along microtubule
(GO:0047496)

Other Information

Proteins

Huntingtin-associated protein 1

Genular Protein ID: 2924776516

Symbol: HAP1_HUMAN

Name: Huntingtin-associated protein 1

UniProtKB Accession Codes:

P54257 A8MQB5 O75358 Q59GK4 Q9H4G3 Q9HA98 Q9NY90

Database IDs:

Citations:

PubMed ID: 9668110

Title: A human HAP1 homologue. Cloning, expression, and interaction with huntingtin.

PubMed ID: 9668110

DOI: 10.1074/jbc.273.30.19220

PubMed ID: 10974549

Title: Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism.

PubMed ID: 10974549

DOI: 10.1016/s0378-1119(00)00269-9

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

PubMed ID: 7477378

Title: A huntingtin-associated protein enriched in brain with implications for pathology.

PubMed ID: 7477378

DOI: 10.1038/378398a0

PubMed ID: 9742138

Title: The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human.

PubMed ID: 9742138

DOI: 10.1523/jneurosci.18-19-07674.1998

PubMed ID: 18922795

Title: Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued.

PubMed ID: 18922795

DOI: 10.1074/jbc.m804183200

PubMed ID: 19996106

Title: Huntingtin-associated protein-1 interacts with pro-brain-derived neurotrophic factor and mediates its transport and release.

PubMed ID: 19996106

DOI: 10.1074/jbc.m109.073197

PubMed ID: 21386698

Title: Interaction of ataxin-3 with huntingtin-associated protein 1 through Josephin domain.

PubMed ID: 21386698

DOI: 10.1097/wnr.0b013e32834505f4

PubMed ID: 22731248

Title: Huntingtin associated protein 1 regulates trafficking of the amyloid precursor protein and modulates amyloid beta levels in neurons.

PubMed ID: 22731248

DOI: 10.1111/j.1471-4159.2012.07845.x

PubMed ID: 23532844

Title: The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

PubMed ID: 23532844

DOI: 10.1074/jbc.m112.420786

PubMed ID: 25074808

Title: Proteomic analysis of mammalian sperm cells identifies new components of the centrosome.

PubMed ID: 25074808

DOI: 10.1242/jcs.157008

PubMed ID: 18192679

Title: Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease.

PubMed ID: 18192679

DOI: 10.1093/hmg/ddn003

Sequence Information:

Length: 671
Mass: 75506
Checksum: 10971B807941B4EE
Sequence:

MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF 
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR 
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL 
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL 
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI 
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS 
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM 
QLQEESVWVG SQLQDLREKY MDCGGMLIEM QEEVKTLRQQ PPVSTGSATH YPYSVPLETL 
PGFQETLAEE LRTSLRRMIS DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE 
GLMLAADIMR GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD 
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK GECPHGALPA 
ASRTSCRSSC R

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: HAP1

Associated with

Other Information

A human HAP1 homologue. Cloning, expression, and interaction with huntingtin. PubMed ID: 9668110

Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism. PubMed ID: 10974549

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. PubMed ID: 16625196

A huntingtin-associated protein enriched in brain with implications for pathology. PubMed ID: 7477378

The cellular and subcellular localization of huntingtin-associated protein 1 (HAP1): comparison with huntingtin in rat and human. PubMed ID: 9742138

Huntingtin regulates RE1-silencing transcription factor/neuron-restrictive silencer factor (REST/NRSF) nuclear trafficking indirectly through a complex with REST/NRSF-interacting LIM domain protein (RILP) and dynactin p150 Glued. PubMed ID: 18922795

Huntingtin-associated protein-1 interacts with pro-brain-derived neurotrophic factor and mediates its transport and release. PubMed ID: 19996106

Interaction of ataxin-3 with huntingtin-associated protein 1 through Josephin domain. PubMed ID: 21386698

Huntingtin associated protein 1 regulates trafficking of the amyloid precursor protein and modulates amyloid beta levels in neurons. PubMed ID: 22731248

The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions. PubMed ID: 23532844

Proteomic analysis of mammalian sperm cells identifies new components of the centrosome. PubMed ID: 25074808

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease. PubMed ID: 18192679