Human Gene HAP1 (ENST00000310778.5) from GENCODE V44
Description: Homo sapiens huntingtin associated protein 1 (HAP1), transcript variant 6, mRNA. (from RefSeq NM_001367460) RefSeq Summary (NM_177977): 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]. Gencode Transcript: ENST00000310778.5 Gencode Gene: ENSG00000173805.16 Transcript (Including UTRs) Position: hg38 chr17:41,722,640-41,734,644 Size: 12,005 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr17:41,724,701-41,734,634 Size: 9,934 Coding Exon Count: 12
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.
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.
Pfam Domains: PF04849 - HAP1 N-terminal conserved region
ModBase Predicted Comparative 3D Structure on P54257
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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.
US Server
