NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND B).
TISSUE=Brain;
DOI=10.1038/378398a0; PubMed=7477378 [NCBI, ExPASy, EBI, Israel, Japan]
Li X.-J., Li S.-H., Sharp A.H., Nucifora F.C. Jr., Schilling G., Lanahan A., Worley P., Snyder S.H., Ross C.A.;
"A huntingtin-associated protein enriched in brain with implications for pathology.";
Nature 378:398-402(1995).

Comments

FUNCTION: Associates specifically with huntingtin. This binding is enhanced by an expanded polyglutamine repeat.

ALTERNATIVE PRODUCTS: 2 named isoforms [FASTA] produced by alternative splicing.

Name	B
Synonyms	Long
Isoform ID	P54256-1
This is the isoform sequence displayed in this entry.

Name	A
Synonyms	Short
Isoform ID	P54256-2
Features which should be applied to build the isoform sequence: VSP_004280.

TISSUE SPECIFICITY: In the brain, especially in the olfactory bulb and in the brain stem. No detectable expression in peripheral tissues such as lung, testis, spleen, and small intestine.
SIMILARITY: Contains 1 HAP1 N-terminal domain.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

U38370; AAC52326.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
U38373; AAC52327.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI

IPI00211805; -.
IPI00231413; -.

PIR

S67492; S67492.
S67495; S67495.

RefSeq

NP_077047.1; -.
NP_817091.1; -.

UniGene

Rn.37430

3D structure databases

ModBase

P54256.

Protein-protein interaction databases

IntAct

P54256; 4.

Organism-specific databases

RGD

68327; Hap1.

Gene expression databases

ArrayExpress

P54256; -.

GermOnline

ENSRNOG00000014819; Rattus norvegicus.

Ontologies

GO:0005769;	Cellular component: early endosome (traceable author statement from RGD).
GO:0005770;	Cellular component: late endosome (traceable author statement from RGD).
GO:0045022;	Biological process: early endosome to late endosome transport (traceable author statement from RGD).
GO:0007399;	Biological process: nervous system development (inferred from direct assay from RGD).
GO:0007268;	Biological process: synaptic transmission (inferred from physical interaction from RGD).
QuickGo view.

Family and domain databases

InterPro

IPR006933; HAP1_N.
Graphical view of domain structure.

Pfam

PF04849; HAP1_N; 1.
Pfam graphical view of domain structure.

Genome annotation databases

Ensembl

ENSRNOG00000014819; Rattus norvegicus. [Contig view]

GeneID

29430; -.

KEGG

rno:29430; -.

Phylogenomic databases

HOVERGEN

P54256; -.

Other

609148; -.

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Alternative splicing.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 629`	`629`	`Huntingtin-associated protein 1.`	`PRO_0000083896`
`DOMAIN`	`80 404`	`325`	`HAP1 N-terminal.`
`COMPBIAS`	`220 529`	`310`	`Glu-rich.`
`COMPBIAS`	`220 237`	`18`	`Poly-Glu.`
`COMPBIAS`	`468 471`	`4`	`Poly-Pro.`
`VAR_SEQ`	`579 629`		`DSPAPQQQTNMGGGIVEQQPIVPTQDSQRLEEDRATHSPS` `AREEEGPSGAT -> GECSRRGHPPASGTSYRSSTL (in isoform A).`	`VSP_004280`

Sequence information

Length: 629 AA [This is the length of the unprocessed precursor]

Molecular weight: 70213 Da [This is the MW of the unprocessed precursor]

CRC64: C23C5CB57520B574 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MRPKDQVQSS AGDGTGSGDP ATGTPTTQPA ADPAPEPSAE PKPAPAQGTG SGQKSGSRTK 

        70         80         90        100        110        120 
TGGSFCRSRI RGDSDAPWTR YIFQGPYGPR ATGLGTGRAE GIWKTPAAYI GRRPGVSGPE 

       130        140        150        160        170        180 
RAAFIRELQE ALCPNPLPRK KITEDDIKVM LYLLEEKERD LNTAARIGQS LVKQNSVLME 

       190        200        210        220        230        240 
ENNKLETMLG SAREEILHLR KQVNLRDDLL QLYSDSDDDE EDEEDEEEEE GEEEEREGQR 

       250        260        270        280        290        300 
DQDQQHDHPY GAPKPPPKAE TLHHCPQLEA LKQKLKLLEE ENDHLREEAS HLDNLEDKEQ 

       310        320        330        340        350        360 
MLILECVEQF SEASQQMAEL SEVLVLRLEG YERQQKEITQ LQAEITKLQQ RCQSYGAQTE 

       370        380        390        400        410        420 
KLQQQLASEK GVHPESLRAG SHMQDYGSRP RERQEDGKSH RQRSSMPAGS VTHYGYSVPL 

       430        440        450        460        470        480 
DALPSFPETL AEELRTSLRK FITDPAYFME RCDTRCREER KKEQGTMPPP PVQDLKPPED 

       490        500        510        520        530        540 
FEAPEELVPE EELGAIEEVG TAEDGPAEET EQASEETEAW EEVEPEVDEA TRMNVVVSAL 

       550        560        570        580        590        600 
EASGLGPSHL DMKYVLQQLS NWQDAHSKRQ QKQKVVPKDS PAPQQQTNMG GGIVEQQPIV 

       610        620 
PTQDSQRLEE DRATHSPSAR EEEGPSGAT

P54256 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools