UniProtKB - P54257 (HAP1_HUMAN)
Huntingtin-associated protein 1
HAP1
Functioni
Miscellaneous
GO - Molecular functioni
- brain-derived neurotrophic factor binding Source: UniProtKB
- ion channel binding Source: UniProtKB
- myosin binding Source: GO_Central
- signaling receptor binding Source: GO_Central
GO - Biological processi
- anterograde axonal transport Source: UniProtKB
- anterograde axonal transport of mitochondrion Source: GO_Central
- autophagy Source: UniProtKB-KW
- brain development Source: UniProtKB
- cell projection organization Source: UniProtKB-KW
- cerebellum development Source: Ensembl
- chemical synaptic transmission Source: ProtInc
- exocytosis Source: UniProtKB-KW
- hypothalamus cell differentiation Source: Ensembl
- mitochondrion distribution Source: GO_Central
- negative regulation of amyloid-beta formation Source: UniProtKB
- neurogenesis Source: GO_Central
- neurotrophin TRK receptor signaling pathway Source: UniProtKB
- positive regulation of epidermal growth factor receptor signaling pathway Source: UniProtKB
- positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity Source: UniProtKB
- positive regulation of neurogenesis Source: Ensembl
- positive regulation of neurotrophin production Source: UniProtKB
- positive regulation of non-motile cilium assembly Source: UniProtKB
- positive regulation of synaptic transmission, GABAergic Source: UniProtKB
- protein localization Source: UniProtKB
- protein targeting Source: GO_Central
- regulation of exocytosis Source: UniProtKB
- regulation of organelle transport along microtubule Source: UniProtKB
- retrograde axonal transport Source: UniProtKB
- vesicle transport along microtubule Source: GO_Central
Keywordsi
Biological process | Autophagy, Cilium biogenesis/degradation, Exocytosis, Protein transport, Transport |
Enzyme and pathway databases
PathwayCommonsi | P54257 |
SIGNORi | P54257 |
Names & Taxonomyi
Protein namesi | Recommended name: Huntingtin-associated protein 1Short name: HAP-1 Alternative name(s): Neuroan 1 |
Gene namesi | Name:HAP1 Synonyms:HAP2, HLP1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000173805.15 |
HGNCi | HGNC:4812, HAP1 |
MIMi | 600947, gene |
neXtProti | NX_P54257 |
Subcellular locationi
Cytoskeleton
- cytoskeleton By similarity
Endoplasmic reticulum
- Endoplasmic reticulum By similarity
Mitochondrion
- Mitochondrion 1 Publication
Nucleus
- Nucleus By similarity
Lysosome
- Lysosome By similarity
Endosome
- Early endosome By similarity
Other locations
- Cytoplasm 1 Publication
- axon 1 Publication
- presynapse By similarity
- dendritic spine By similarity
- dendrite By similarity
- autophagosome By similarity
- growth cone By similarity
- neuron projection By similarity
- synaptic vesicle By similarity
Note: Localizes to large nonmembrane-bound cytoplasmic bodies found in various types of neurons, called stigmoid bodies (STBs). Localization to neuronal processes and neurite tips is decreased by YWHAZ. In the nucleus localizes to nuclear rods.By similarity
Cytoskeleton
- actin cytoskeleton Source: ProtInc
- centriole Source: Ensembl
- centrosome Source: Ensembl
- cytoskeleton Source: ProtInc
Cytosol
- cytosol Source: HPA
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB-SubCell
Endosome
- early endosome Source: UniProtKB-SubCell
Lysosome
- lysosome Source: UniProtKB-SubCell
Mitochondrion
- mitochondrion Source: GO_Central
Nucleus
- nucleolus Source: HPA
Other locations
- autophagosome Source: UniProtKB-SubCell
- axon cytoplasm Source: GOC
- cytoplasm Source: GO_Central
- cytoplasmic vesicle Source: GO_Central
- dendrite Source: GO_Central
- dendritic spine Source: UniProtKB-SubCell
- growth cone Source: UniProtKB-SubCell
- inclusion body Source: UniProtKB
- synaptic vesicle Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell junction, Cell projection, Cytoplasm, Cytoplasmic vesicle, Cytoskeleton, Endoplasmic reticulum, Endosome, Lysosome, Mitochondrion, Nucleus, SynapsePathology & Biotechi
Organism-specific databases
DisGeNETi | 9001 |
OpenTargetsi | ENSG00000173805 |
PharmGKBi | PA29188 |
Miscellaneous databases
Pharosi | P54257, Tbio |
Polymorphism and mutation databases
BioMutai | HAP1 |
DMDMi | 290457683 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000083894 | 1 – 671 | Huntingtin-associated protein 1Add BLAST | 671 |
Proteomic databases
EPDi | P54257 |
PeptideAtlasi | P54257 |
PRIDEi | P54257 |
ProteomicsDBi | 56659 [P54257-1] 56660 [P54257-2] 56661 [P54257-3] 56662 [P54257-4] |
PTM databases
iPTMneti | P54257 |
PhosphoSitePlusi | P54257 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000173805, Expressed in hypothalamus and 163 other tissues |
ExpressionAtlasi | P54257, baseline and differential |
Genevisiblei | P54257, HS |
Organism-specific databases
HPAi | ENSG00000173805, Tissue enhanced (brain, stomach) |
Interactioni
Subunit structurei
Self-associates.
Interacts with HTT/huntingtin; enhanced by an expanded polyglutamine repeat within HTT.
Interacts with DCTN1; decreased in presence of HTT with expanded polyglutamine repeat.
Interacts with KLC2.
Interacts with ITPR1 and APP.
Interacts with AR; decreased by an expanded polyglutamine repeat within AR.
Interacts with YWHAZ.
Interacts with BDNF and SORT1; probably forming a complex involved in proBDNF trafficking, degradation and processing.
Interacts with TBP, AHI1, HGS and KALRN.
Interacts with KIF5A, KIF5B, KIF5C and GABRB3; indicative for an HAP1:KIF5 complex transporting a GABA(A) receptor as cargo.
Interacts with ATXN3; in STBs with ATXN3 poly-Gln region with 27 repeats (normal population) and 79 repeats (spinocerebellar ataxia 3 (SCA3) patients) associating in the same strength.
Interacts with NTRK2; HAP1 stabilizes association of NTRK2 with SORT1 preventing NTRK2 degradation.
Interacts with CCDC113.
5 PublicationsBinary interactionsi
Hide detailsP54257
Isoform 2 [P54257-2]
With | #Exp. | IntAct |
---|---|---|
HTT [P42858] | 8 | EBI-9392340,EBI-466029 |
GO - Molecular functioni
- brain-derived neurotrophic factor binding Source: UniProtKB
- ion channel binding Source: UniProtKB
- myosin binding Source: GO_Central
- signaling receptor binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 114480, 95 interactors |
CORUMi | P54257 |
IntActi | P54257, 74 interactors |
MINTi | P54257 |
STRINGi | 9606.ENSP00000334002 |
Miscellaneous databases
RNActi | P54257, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 106 – 461 | HAP1 N-terminalAdd BLAST | 356 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 212 – 427 | Sequence analysisAdd BLAST | 216 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 261 – 601 | Glu-richAdd BLAST | 341 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG4360, Eukaryota |
GeneTreei | ENSGT00940000162183 |
HOGENOMi | CLU_036493_0_0_1 |
InParanoidi | P54257 |
OMAi | ALRMENH |
OrthoDBi | 592923at2759 |
PhylomeDBi | P54257 |
TreeFami | TF323495 |
Family and domain databases
InterProi | View protein in InterPro IPR006933, HAP1_N |
Pfami | View protein in Pfam PF04849, HAP1_N, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV
60 70 80 90 100
GSRATSGSQF LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS
110 120 130 140 150
DAPWTRFVFQ GPFGSRATGR GTGKAAGIWK TPAAYVGRRP GVSGPERAAF
160 170 180 190 200
IRELEEALCP NLPPPVKKIT QEDVKVMLYL LEELLPPVWE SVTYGMVLQR
210 220 230 240 250
ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL YLRHQVNLRD
260 270 280 290 300
ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
310 320 330 340 350
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL
360 370 380 390 400
ECVEQFSEAS QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM
410 420 430 440 450
YGAETEKLQK QLASEKEIQM QLQEESVWVG SQLQDLREKY MDCGGMLIEM
460 470 480 490 500
QEEVKTLRQQ PPVSTGSATH YPYSVPLETL PGFQETLAEE LRTSLRRMIS
510 520 530 540 550
DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE GLMLAADIMR
560 570 580 590 600
GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
610 620 630 640 650
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK
660 670
GECPHGALPA ASRTSCRSSC R
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7C295 | H7C295_HUMAN | Huntingtin-associated protein 1 | HAP1 | 111 | Annotation score: | ||
H7C0W9 | H7C0W9_HUMAN | Huntingtin-associated protein 1 | HAP1 | 40 | Annotation score: | ||
H7BZC9 | H7BZC9_HUMAN | Huntingtin-associated protein 1 | HAP1 | 73 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 184 – 199 | Missing in CAB82785 (Ref. 6) CuratedAdd BLAST | 16 | |
Sequence conflicti | 573 | P → L in BAB13952 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 579 | M → V in AAC39861 (PubMed:9668110).Curated | 1 | |
Sequence conflicti | 611 | A → T in AAC50297 (PubMed:7477378).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_046736 | 4 | K → R3 PublicationsCorresponds to variant dbSNP:rs4796604Ensembl. | 1 | |
Natural variantiVAR_046737 | 58 | S → T3 PublicationsCorresponds to variant dbSNP:rs4796603Ensembl. | 1 | |
Natural variantiVAR_046738 | 357 | S → L3 PublicationsCorresponds to variant dbSNP:rs4796693Ensembl. | 1 | |
Natural variantiVAR_056906 | 408 | L → F. Corresponds to variant dbSNP:rs35612698Ensembl. | 1 | |
Natural variantiVAR_046739 | 437 | R → W1 PublicationCorresponds to variant dbSNP:rs11867808Ensembl. | 1 | |
Natural variantiVAR_046741 | 483 | F → L. Corresponds to variant dbSNP:rs8075017Ensembl. | 1 | |
Natural variantiVAR_046742 | 488 | A → V. Corresponds to variant dbSNP:rs34853043Ensembl. | 1 | |
Natural variantiVAR_056907 | 493 | T → M May influence the age-at-onset of Huntington disease; increases binding to mutated HTT; influences HTT degradation. 2 PublicationsCorresponds to variant dbSNP:rs4523977Ensembl. | 1 | |
Natural variantiVAR_056908 | 557 | A → V. Corresponds to variant dbSNP:rs34853043Ensembl. | 1 | |
Natural variantiVAR_062817 | 560 | F → L6 PublicationsCorresponds to variant dbSNP:rs8075017Ensembl. | 1 | |
Natural variantiVAR_056909 | 656 | G → R. Corresponds to variant dbSNP:rs34044330Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_038754 | 183 | E → EVCTAFLIQ in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_004277 | 401 – 477 | Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST | 77 | |
Alternative sequenceiVSP_004278 | 426 – 477 | Missing in isoform 2. 2 PublicationsAdd BLAST | 52 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF040723 mRNA Translation: AAC39861.1 AJ012824 Genomic DNA Translation: CAC09418.1 AK022007 mRNA Translation: BAB13952.1 AC109319 Genomic DNA No translation available. AB209105 mRNA Translation: BAD92342.1 AJ224877 Genomic DNA Translation: CAB82785.1 U38371 mRNA Translation: AAC50297.1 |
CCDSi | CCDS11406.1 [P54257-2] CCDS42338.1 [P54257-4] CCDS42339.1 [P54257-3] |
PIRi | S72555 |
RefSeqi | NP_001073339.1, NM_001079870.1 [P54257-4] NP_001073340.1, NM_001079871.1 [P54257-3] NP_817084.2, NM_177977.2 [P54257-2] |
Genome annotation databases
Ensembli | ENST00000310778; ENSP00000309392; ENSG00000173805 [P54257-1] ENST00000341193; ENSP00000343170; ENSG00000173805 [P54257-4] ENST00000347901; ENSP00000334002; ENSG00000173805 [P54257-2] ENST00000393939; ENSP00000377513; ENSG00000173805 [P54257-3] |
GeneIDi | 9001 |
KEGGi | hsa:9001 |
UCSCi | uc002hxm.2, human [P54257-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF040723 mRNA Translation: AAC39861.1 AJ012824 Genomic DNA Translation: CAC09418.1 AK022007 mRNA Translation: BAB13952.1 AC109319 Genomic DNA No translation available. AB209105 mRNA Translation: BAD92342.1 AJ224877 Genomic DNA Translation: CAB82785.1 U38371 mRNA Translation: AAC50297.1 |
CCDSi | CCDS11406.1 [P54257-2] CCDS42338.1 [P54257-4] CCDS42339.1 [P54257-3] |
PIRi | S72555 |
RefSeqi | NP_001073339.1, NM_001079870.1 [P54257-4] NP_001073340.1, NM_001079871.1 [P54257-3] NP_817084.2, NM_177977.2 [P54257-2] |
3D structure databases
SMRi | P54257 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 114480, 95 interactors |
CORUMi | P54257 |
IntActi | P54257, 74 interactors |
MINTi | P54257 |
STRINGi | 9606.ENSP00000334002 |
PTM databases
iPTMneti | P54257 |
PhosphoSitePlusi | P54257 |
Polymorphism and mutation databases
BioMutai | HAP1 |
DMDMi | 290457683 |
Proteomic databases
EPDi | P54257 |
PeptideAtlasi | P54257 |
PRIDEi | P54257 |
ProteomicsDBi | 56659 [P54257-1] 56660 [P54257-2] 56661 [P54257-3] 56662 [P54257-4] |
Protocols and materials databases
Antibodypediai | 80380, 235 antibodies |
DNASUi | 9001 |
Genome annotation databases
Ensembli | ENST00000310778; ENSP00000309392; ENSG00000173805 [P54257-1] ENST00000341193; ENSP00000343170; ENSG00000173805 [P54257-4] ENST00000347901; ENSP00000334002; ENSG00000173805 [P54257-2] ENST00000393939; ENSP00000377513; ENSG00000173805 [P54257-3] |
GeneIDi | 9001 |
KEGGi | hsa:9001 |
UCSCi | uc002hxm.2, human [P54257-1] |
Organism-specific databases
CTDi | 9001 |
DisGeNETi | 9001 |
EuPathDBi | HostDB:ENSG00000173805.15 |
GeneCardsi | HAP1 |
HGNCi | HGNC:4812, HAP1 |
HPAi | ENSG00000173805, Tissue enhanced (brain, stomach) |
MIMi | 600947, gene |
neXtProti | NX_P54257 |
OpenTargetsi | ENSG00000173805 |
PharmGKBi | PA29188 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4360, Eukaryota |
GeneTreei | ENSGT00940000162183 |
HOGENOMi | CLU_036493_0_0_1 |
InParanoidi | P54257 |
OMAi | ALRMENH |
OrthoDBi | 592923at2759 |
PhylomeDBi | P54257 |
TreeFami | TF323495 |
Enzyme and pathway databases
PathwayCommonsi | P54257 |
SIGNORi | P54257 |
Miscellaneous databases
BioGRID-ORCSi | 9001, 38 hits in 837 CRISPR screens |
ChiTaRSi | HAP1, human |
GenomeRNAii | 9001 |
Pharosi | P54257, Tbio |
PROi | PR:P54257 |
RNActi | P54257, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000173805, Expressed in hypothalamus and 163 other tissues |
ExpressionAtlasi | P54257, baseline and differential |
Genevisiblei | P54257, HS |
Family and domain databases
InterProi | View protein in InterPro IPR006933, HAP1_N |
Pfami | View protein in Pfam PF04849, HAP1_N, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HAP1_HUMAN | |
Accessioni | P54257Primary (citable) accession number: P54257 Secondary accession number(s): A8MQB5 Q9NY90 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1996 |
Last sequence update: | March 2, 2010 | |
Last modified: | December 2, 2020 | |
This is version 164 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations