Reviewed, UniProtKB/Swiss-Prot Q96EW2 (HBAP1_HUMAN)

Names and origin

Protein names

Recommended name:
    HSPB1-associated protein 1
Alternative name(s):
    27 KdA heat shock protein-associated protein 1
    Protein associated with small stress protein 1

Gene names

Name:	HSPBAP1
Synonyms:	PASS1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	488 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in cellular stress response By similarity.
Subunit structure	Interacts with CRYAB and HSPB1. Ref.4
Subcellular location	Cytoplasm By similarity.
Tissue specificity	Widely expressed. Ref.1
Involvement in disease	A chromosomal aberration involving HSPBAP1 is found in familial renal cell carcinoma 1 (RCC1) [MIM:144700]. Translocation t(2;3)(q35;q21) with the putative pseudogene DIRC3. Produces an hybrid mRNA encoding a truncated HSPBAP1 lacking the first 36 amino acids.
Sequence similarities	Contains 1 JmjC domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96EW2-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q96EW2-2)

The sequence of this isoform differs from the canonical sequence as follows:
     191-225: KRWHLFPPEDTPFLYPTRIPYEESSVFSKINVVNP → LECNGMIIAPGPQAILLPQPLKYLGLQETMASLSS
     226-488: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96EW2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     250-280: FVPRHWWHYVESIDPVTVSINSWIELEEDHL → ERKWQEGTQLLLLVKRRMDFGGRQSTRVIFI
     281-488: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 488	488	HSPB1-associated protein 1		PRO_0000284113
Regions
	Domain	124 – 288	165	JmjC
	Region	88 – 208	121	Interaction with HSPB1 By similarity
Natural variations
	Alternative sequence	191 – 225	35	KRWHL…NVVNP → LECNGMIIAPGPQAILLPQP LKYLGLQETMASLSS in isoform 2.		VSP_024442
	Alternative sequence	226 – 488	263	Missing in isoform 2.		VSP_024443
	Alternative sequence	250 – 280	31	FVPRH…EEDHL → ERKWQEGTQLLLLVKRRMDF GGRQSTRVIFI in isoform 3.		VSP_024444
	Alternative sequence	281 – 488	208	Missing in isoform 3.		VSP_024445
	Natural variant	64	1	S → A: dbSNP rs16833517.		VAR_031703
Experimental info
	Sequence conflict	46	1	F → L in BAC04847. Ref.2
	Sequence conflict	320	1	V → A in AAM64044. Ref.1
	Sequence conflict	456	1	P → PS in AAH17763. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: 504621FC6762F796	FASTA	488	55,167
	10 20 30 40 50 60 MAAGSEATTP VIVAAGAGGE EGEHVKPFKP EKAKEIIMSL QQPAIFCNMV FDWPARHWNA 70 80 90 100 110 120 KYLSQVLHGK QIRFRMGMKS MSTVPQFETT CNYVEATLEE FLTWNCDQSS ISGPFRDYDH 130 140 150 160 170 180 SKFWAYADYK YFVSLFEDKT DLFQDVKWSD FGFPGRNGQE STLWIGSLGA HTPCHLDSYG 190 200 210 220 230 240 CNLVFQVQGR KRWHLFPPED TPFLYPTRIP YEESSVFSKI NVVNPDLKRF PQFRKAQRHA 250 260 270 280 290 300 VTLSPGQVLF VPRHWWHYVE SIDPVTVSIN SWIELEEDHL ARVEEAITRM LVCALKTAEN 310 320 330 340 350 360 PQNTRAWLNP TEVEETSHAV NCCYLNAAVS AFFDRCRTSE VVEIQALRTD GEHMKKEELN 370 380 390 400 410 420 VCNHMEVGQT GSQNLTTGTD KPEAASPFGP DLVPVAQRSE EPPSERGGIF GSDGKDFVDK 430 440 450 460 470 480 DGEHFGKLHC AKRQQIMSNS ENAIEEQIAS NTTTTPQTFI STDDLLDCLV NPQVTRIVAQ LLIQGRSL
	Isoform 2. Checksum: 5725B9D6C9B86517	FASTA	225	25,240
	10 20 30 40 50 60 MAAGSEATTP VIVAAGAGGE EGEHVKPFKP EKAKEIIMSL QQPAIFCNMV FDWPARHWNA 70 80 90 100 110 120 KYLSQVLHGK QIRFRMGMKS MSTVPQFETT CNYVEATLEE FLTWNCDQSS ISGPFRDYDH 130 140 150 160 170 180 SKFWAYADYK YFVSLFEDKT DLFQDVKWSD FGFPGRNGQE STLWIGSLGA HTPCHLDSYG 190 200 210 220 CNLVFQVQGR LECNGMIIAP GPQAILLPQP LKYLGLQETM ASLSS
	Isoform 3. Checksum: 695CE40384B215E2	FASTA	280	32,266
	10 20 30 40 50 60 MAAGSEATTP VIVAAGAGGE EGEHVKPFKP EKAKEIIMSL QQPAIFCNMV FDWPARHWNA 70 80 90 100 110 120 KYLSQVLHGK QIRFRMGMKS MSTVPQFETT CNYVEATLEE FLTWNCDQSS ISGPFRDYDH 130 140 150 160 170 180 SKFWAYADYK YFVSLFEDKT DLFQDVKWSD FGFPGRNGQE STLWIGSLGA HTPCHLDSYG 190 200 210 220 230 240 CNLVFQVQGR KRWHLFPPED TPFLYPTRIP YEESSVFSKI NVVNPDLKRF PQFRKAQRHA 250 260 270 280 VTLSPGQVLE RKWQEGTQLL LLVKRRMDFG GRQSTRVIFI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning and characterization of a novel human gene (HSPBAP1) from human fetal brain." Jiang M., Ma Y., Cheng H., Ni X., Guo L., Xie Y., Mao Y. Cytogenet. Cell Genet. 95:48-51(2001) [PubMed: 11978969] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Fetal brain.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Placenta.
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Lung, Ovary and Prostate.
[4]	"Identification and characterization of a novel protein from Sertoli cells, PASS1, that associates with mammalian small stress protein hsp27." Liu C., Gilmont R.R., Benndorf R., Welsh M.J. J. Biol. Chem. 275:18724-18731(2000) [PubMed: 10751411] [Abstract] Cited for: INTERACTION WITH CRYAB AND HSPB1.
[5]	"Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21)." Bodmer D., Schepens M., Eleveld M.J., Schoenmakers E.F.P.M., Geurts van Kessel A. Genes Chromosomes Cancer 38:107-116(2003) [PubMed: 12939738] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH DIRC3.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF400663 mRNA. Translation: AAM64044.1. AK096705 mRNA. Translation: BAC04847.1. BC011897 mRNA. Translation: AAH11897.1. BC017763 mRNA. Translation: AAH17763.1. Different initiation. BC063629 mRNA. Translation: AAH63629.1.
IPI	IPI00298207. IPI00303932. IPI00440544.
RefSeq	NP_078886.2.
UniGene	Hs.29169
3D structure databases
HSSP	HSSP built from PDB template 1MZF based on UniProtKB Q9NWT6.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96EW2. 1 interaction.
Proteomic databases
PRIDE	Q96EW2.
Genome annotation databases
Ensembl	ENSG00000169087. Homo sapiens. [Contig view]
GeneID	79663.
KEGG	hsa:79663.
Organism-specific databases
GeneCards	GC03M123941.
HGNC	HGNC:16389. HSPBAP1.
MIM	144700. phenotype. 608263. gene.
Orphanet	151. Renal cell carcinoma, familial.
PharmGKB	PA29515.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96EW2.
Gene expression databases
ArrayExpress	Q96EW2.
Bgee	Q96EW2.
CleanEx	HS_HSPBAP1.
Family and domain databases
InterPro	IPR013296. PASS1. IPR013129. TF_JmjC. IPR003347. TF_JmjC_AAH. [Graphical view]
Pfam	PF02373. JmjC. 1 hit. [Graphical view]
PRINTS	PR01886. PASS1.
SMART	SM00558. JmjC. 1 hit. [Graphical view]
PROSITE	PS51184. JMJC. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	68856.
SOURCE	Search...

Entry information

Entry name

HBAP1_HUMAN

Accession

Primary (citable) accession number: Q96EW2
Secondary accession number(s): Q6P476 , Q8N8J4, Q8NHH6, Q8WWF0

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 17, 2007
Last sequence update:	December 1, 2001
Last modified:	June 16, 2009
This is version 43 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)