Human Gene HAP1 (ENST00000347901.9_9) from GENCODE V47lift37
  Description: huntingtin associated protein 1, transcript variant 2 (from RefSeq NM_177977.3)
Gencode Transcript: ENST00000347901.9_9
Gencode Gene: ENSG00000173805.16_15
Transcript (Including UTRs)
   Position: hg19 chr17:39,878,892-39,890,895 Size: 12,004 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr17:39,880,953-39,890,886 Size: 9,934 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:39,878,892-39,890,895)mRNA (may differ from genome)Protein (619 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HAP1_HUMAN
DESCRIPTION: RecName: Full=Huntingtin-associated protein 1; Short=HAP-1; AltName: Full=Neuroan 1;
FUNCTION: Associates specifically with huntingtin. This binding is enhanced by an expanded polyglutamine repeat.
TISSUE SPECIFICITY: Predominantly expressed in brain. Selectively expressed in neurons.
SIMILARITY: Contains 1 HAP1 N-terminal domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HAP1
Diseases sorted by gene-association score: huntington disease (28), spinocerebellar ataxia 17 (10), bardet-biedl syndrome 4 (8), joubert syndrome 1 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 15.06 RPKM in Brain - Hypothalamus
Total median expression: 81.11 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -828.692061-0.402 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR006933 - HAP1_N

Pfam Domains:
PF04849 - HAP1 N-terminal conserved region

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on P54257
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0044325 ion channel binding
GO:0048403 brain-derived neurotrophic factor binding

Biological Process:
GO:0006887 exocytosis
GO:0006914 autophagy
GO:0007268 chemical synaptic transmission
GO:0007420 brain development
GO:0008089 anterograde axonal transport
GO:0008090 retrograde axonal transport
GO:0008104 protein localization
GO:0015031 protein transport
GO:0017157 regulation of exocytosis
GO:0021549 cerebellum development
GO:0021979 hypothalamus cell differentiation
GO:0022008 neurogenesis
GO:0030030 cell projection organization
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:0045742 positive regulation of epidermal growth factor receptor signaling pathway
GO:0047496 vesicle transport along microtubule
GO:0048011 neurotrophin TRK receptor signaling pathway
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 non-motile cilium assembly

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005764 lysosome
GO:0005776 autophagosome
GO:0005783 endoplasmic reticulum
GO:0005813 centrosome
GO:0005814 centriole
GO:0005856 cytoskeleton
GO:0008021 synaptic vesicle
GO:0015629 actin cytoskeleton
GO:0016234 inclusion body
GO:0030054 cell junction
GO:0030424 axon
GO:0031410 cytoplasmic vesicle
GO:0042995 cell projection
GO:0045202 synapse
GO:1904115 axon cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AB209105 - Homo sapiens mRNA for huntingtin-associated protein 1 isoform 2 variant protein.
LF209333 - JP 2014500723-A/16836: Polycomb-Associated Non-Coding RNAs.
AF040723 - Homo sapiens neuroan1 mRNA, complete cds.
GQ901030 - Homo sapiens clone HEL-T-142 epididymis secretory sperm binding protein mRNA, complete cds.
AK022007 - Homo sapiens cDNA FLJ11945 fis, clone HEMBB1000693, highly similar to Homo sapiens neuroan1 mRNA.
JD165912 - Sequence 146936 from Patent EP1572962.
JD273733 - Sequence 254757 from Patent EP1572962.
JD048162 - Sequence 29186 from Patent EP1572962.
JD072491 - Sequence 53515 from Patent EP1572962.
JD251994 - Sequence 233018 from Patent EP1572962.
JD164068 - Sequence 145092 from Patent EP1572962.
JD209985 - Sequence 191009 from Patent EP1572962.
JD220705 - Sequence 201729 from Patent EP1572962.
JD157012 - Sequence 138036 from Patent EP1572962.
JD279397 - Sequence 260421 from Patent EP1572962.
JD362781 - Sequence 343805 from Patent EP1572962.
LF327750 - JP 2014500723-A/135253: Polycomb-Associated Non-Coding RNAs.
JD376411 - Sequence 357435 from Patent EP1572962.
JD162018 - Sequence 143042 from Patent EP1572962.
JD545523 - Sequence 526547 from Patent EP1572962.
JD267918 - Sequence 248942 from Patent EP1572962.
JD336559 - Sequence 317583 from Patent EP1572962.
JD319012 - Sequence 300036 from Patent EP1572962.
JD485488 - Sequence 466512 from Patent EP1572962.
JD483308 - Sequence 464332 from Patent EP1572962.
JD363823 - Sequence 344847 from Patent EP1572962.
JD216268 - Sequence 197292 from Patent EP1572962.
JD268671 - Sequence 249695 from Patent EP1572962.
JD540921 - Sequence 521945 from Patent EP1572962.
JD164068 - Sequence 145092 from Patent EP1572962.
JD249371 - Sequence 230395 from Patent EP1572962.
JD549704 - Sequence 530728 from Patent EP1572962.
JD233568 - Sequence 214592 from Patent EP1572962.
JD104289 - Sequence 85313 from Patent EP1572962.
JD272568 - Sequence 253592 from Patent EP1572962.
JD342689 - Sequence 323713 from Patent EP1572962.
JD384007 - Sequence 365031 from Patent EP1572962.
JD499801 - Sequence 480825 from Patent EP1572962.
JD248941 - Sequence 229965 from Patent EP1572962.
JD457272 - Sequence 438296 from Patent EP1572962.
JD405601 - Sequence 386625 from Patent EP1572962.
JD469419 - Sequence 450443 from Patent EP1572962.
JD459173 - Sequence 440197 from Patent EP1572962.
JD387674 - Sequence 368698 from Patent EP1572962.
JD132809 - Sequence 113833 from Patent EP1572962.
JD196824 - Sequence 177848 from Patent EP1572962.
JD532942 - Sequence 513966 from Patent EP1572962.
JD226410 - Sequence 207434 from Patent EP1572962.
JD263793 - Sequence 244817 from Patent EP1572962.
JD495259 - Sequence 476283 from Patent EP1572962.
JD332667 - Sequence 313691 from Patent EP1572962.
JD219749 - Sequence 200773 from Patent EP1572962.
JD222470 - Sequence 203494 from Patent EP1572962.
JD212085 - Sequence 193109 from Patent EP1572962.
LF327751 - JP 2014500723-A/135254: Polycomb-Associated Non-Coding RNAs.
JD277050 - Sequence 258074 from Patent EP1572962.
JD457335 - Sequence 438359 from Patent EP1572962.
JD317877 - Sequence 298901 from Patent EP1572962.
LF327752 - JP 2014500723-A/135255: Polycomb-Associated Non-Coding RNAs.
JD479396 - Sequence 460420 from Patent EP1572962.
JD540509 - Sequence 521533 from Patent EP1572962.
JD217731 - Sequence 198755 from Patent EP1572962.
JD484975 - Sequence 465999 from Patent EP1572962.
JD525066 - Sequence 506090 from Patent EP1572962.
JD432000 - Sequence 413024 from Patent EP1572962.
JD162386 - Sequence 143410 from Patent EP1572962.
JD485725 - Sequence 466749 from Patent EP1572962.
JD525969 - Sequence 506993 from Patent EP1572962.
LF327753 - JP 2014500723-A/135256: Polycomb-Associated Non-Coding RNAs.
JD417546 - Sequence 398570 from Patent EP1572962.
JD322592 - Sequence 303616 from Patent EP1572962.
JD139261 - Sequence 120285 from Patent EP1572962.
JD391740 - Sequence 372764 from Patent EP1572962.
JD361601 - Sequence 342625 from Patent EP1572962.
LF327754 - JP 2014500723-A/135257: Polycomb-Associated Non-Coding RNAs.
BC156728 - Synthetic construct Homo sapiens clone IMAGE:100062247, MGC:190218 huntingtin-associated protein 1 (HAP1) mRNA, encodes complete protein.
AB463758 - Synthetic construct DNA, clone: pF1KB3758, Homo sapiens HAP1 gene for huntingtin-associated protein 1, without stop codon, in Flexi system.
LF327755 - JP 2014500723-A/135258: Polycomb-Associated Non-Coding RNAs.
U38371 - Human HAP1-like protein (hHLP1) mRNA, complete cds.
LF327756 - JP 2014500723-A/135259: Polycomb-Associated Non-Coding RNAs.
U38372 - Human huntingtin associated protein (hHAP1) mRNA, partial cds.
MA563327 - JP 2018138019-A/135253: Polycomb-Associated Non-Coding RNAs.
MA563328 - JP 2018138019-A/135254: Polycomb-Associated Non-Coding RNAs.
MA563329 - JP 2018138019-A/135255: Polycomb-Associated Non-Coding RNAs.
MA563330 - JP 2018138019-A/135256: Polycomb-Associated Non-Coding RNAs.
MA563331 - JP 2018138019-A/135257: Polycomb-Associated Non-Coding RNAs.
MA563332 - JP 2018138019-A/135258: Polycomb-Associated Non-Coding RNAs.
MA563333 - JP 2018138019-A/135259: Polycomb-Associated Non-Coding RNAs.
MA444910 - JP 2018138019-A/16836: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A8MQB5, ENST00000347901.1, ENST00000347901.2, ENST00000347901.3, ENST00000347901.4, ENST00000347901.5, ENST00000347901.6, ENST00000347901.7, ENST00000347901.8, HAP1_HUMAN, HAP2, HLP1, NM_177977, O75358, P54257, Q59GK4, Q9H4G3, Q9HA98, Q9NY90, uc317xpb.1, uc317xpb.2
UCSC ID: ENST00000347901.9_9
RefSeq Accession: NM_177977.3
Protein: P54257 (aka HAP1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.