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Protein

HSPB1-associated protein 1

Gene

HSPBAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May play a role in cellular stress response.By similarity

Names & Taxonomyi

Protein namesi
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 namesi
Name:HSPBAP1
Synonyms:PASS1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:16389. HSPBAP1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving HSPBAP1 has been found in a family with renal carcinoma (PubMed:12939738). Translocation t(2;3)(q35;q21) with the putative pseudogene DIRC3 (PubMed:12939738). Produces a hybrid mRNA encoding a truncated HSPBAP1 lacking the first 36 amino acids (PubMed:12939738).

Organism-specific databases

Orphaneti151. Familial renal cell carcinoma.
PharmGKBiPA29515.

Polymorphism and mutation databases

BioMutaiHSPBAP1.
DMDMi74731618.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 488488HSPB1-associated protein 1PRO_0000284113Add
BLAST

Proteomic databases

EPDiQ96EW2.
MaxQBiQ96EW2.
PaxDbiQ96EW2.
PRIDEiQ96EW2.

PTM databases

iPTMnetiQ96EW2.
PhosphoSiteiQ96EW2.

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiQ96EW2.
CleanExiHS_HSPBAP1.
GenevisibleiQ96EW2. HS.

Organism-specific databases

HPAiHPA044930.

Interactioni

Subunit structurei

Interacts with CRYAB and HSPB1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
ARHGEF5Q127743EBI-720457,EBI-602199
NUTM1Q86Y263EBI-720457,EBI-10178410

Protein-protein interaction databases

BioGridi122788. 7 interactions.
IntActiQ96EW2. 4 interactions.
MINTiMINT-1428264.
STRINGi9606.ENSP00000302562.

Structurei

3D structure databases

ProteinModelPortaliQ96EW2.
SMRiQ96EW2. Positions 32-309.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini124 – 288165JmjCPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni88 – 208121Interaction with HSPB1By similarityAdd
BLAST

Sequence similaritiesi

Contains 1 JmjC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2132. Eukaryota.
ENOG410XQDR. LUCA.
GeneTreeiENSGT00530000062914.
HOVERGENiHBG099816.
InParanoidiQ96EW2.
KOiK19375.
OMAiNCHYLNG.
OrthoDBiEOG7ZWD2P.
PhylomeDBiQ96EW2.
TreeFamiTF315056.

Family and domain databases

InterProiIPR013296. HSPB1-associated_protein_1.
IPR003347. JmjC_dom.
[Graphical view]
PRINTSiPR01886. PASS1.
SMARTiSM00558. JmjC. 1 hit.
[Graphical view]
PROSITEiPS51184. JMJC. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96EW2-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MAAGSEATTP VIVAAGAGGE EGEHVKPFKP EKAKEIIMSL QQPAIFCNMV
60 70 80 90 100
FDWPARHWNA KYLSQVLHGK QIRFRMGMKS MSTVPQFETT CNYVEATLEE
110 120 130 140 150
FLTWNCDQSS ISGPFRDYDH SKFWAYADYK YFVSLFEDKT DLFQDVKWSD
160 170 180 190 200
FGFPGRNGQE STLWIGSLGA HTPCHLDSYG CNLVFQVQGR KRWHLFPPED
210 220 230 240 250
TPFLYPTRIP YEESSVFSKI NVVNPDLKRF PQFRKAQRHA VTLSPGQVLF
260 270 280 290 300
VPRHWWHYVE SIDPVTVSIN SWIELEEDHL ARVEEAITRM LVCALKTAEN
310 320 330 340 350
PQNTRAWLNP TEVEETSHAV NCCYLNAAVS AFFDRCRTSE VVEIQALRTD
360 370 380 390 400
GEHMKKEELN VCNHMEVGQT GSQNLTTGTD KPEAASPFGP DLVPVAQRSE
410 420 430 440 450
EPPSERGGIF GSDGKDFVDK DGEHFGKLHC AKRQQIMSNS ENAIEEQIAS
460 470 480
NTTTTPQTFI STDDLLDCLV NPQVTRIVAQ LLIQGRSL
Length:488
Mass (Da):55,167
Last modified:December 1, 2001 - v1
Checksum:i504621FC6762F796
GO
Isoform 2 (identifier: Q96EW2-2) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:225
Mass (Da):25,240
Checksum:i5725B9D6C9B86517
GO
Isoform 3 (identifier: Q96EW2-3) [UniParc]FASTAAdd to basket

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

Note: No experimental confirmation available.
Show »
Length:280
Mass (Da):32,266
Checksum:i695CE40384B215E2
GO

Sequence cautioni

The sequence AAH17763.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti46 – 461F → L in BAC04847 (PubMed:14702039).Curated
Sequence conflicti320 – 3201V → A in AAM64044 (PubMed:11978969).Curated
Sequence conflicti456 – 4561P → PS in AAH17763 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti64 – 641S → A.
Corresponds to variant rs16833517 [ dbSNP | Ensembl ].
VAR_031703

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei191 – 22535KRWHL…NVVNP → LECNGMIIAPGPQAILLPQP LKYLGLQETMASLSS in isoform 2. 1 PublicationVSP_024442Add
BLAST
Alternative sequencei226 – 488263Missing in isoform 2. 1 PublicationVSP_024443Add
BLAST
Alternative sequencei250 – 28031FVPRH…EEDHL → ERKWQEGTQLLLLVKRRMDF GGRQSTRVIFI in isoform 3. 1 PublicationVSP_024444Add
BLAST
Alternative sequencei281 – 488208Missing in isoform 3. 1 PublicationVSP_024445Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS3017.1. [Q96EW2-1]
RefSeqiNP_001307657.1. NM_001320728.1.
NP_078886.2. NM_024610.5. [Q96EW2-1]
XP_005247819.1. XM_005247762.1. [Q96EW2-3]
XP_011511433.1. XM_011513131.1. [Q96EW2-2]
UniGeneiHs.29169.

Genome annotation databases

EnsembliENST00000306103; ENSP00000302562; ENSG00000169087. [Q96EW2-1]
GeneIDi79663.
KEGGihsa:79663.
UCSCiuc003efu.3. human. [Q96EW2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS3017.1. [Q96EW2-1]
RefSeqiNP_001307657.1. NM_001320728.1.
NP_078886.2. NM_024610.5. [Q96EW2-1]
XP_005247819.1. XM_005247762.1. [Q96EW2-3]
XP_011511433.1. XM_011513131.1. [Q96EW2-2]
UniGeneiHs.29169.

3D structure databases

ProteinModelPortaliQ96EW2.
SMRiQ96EW2. Positions 32-309.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122788. 7 interactions.
IntActiQ96EW2. 4 interactions.
MINTiMINT-1428264.
STRINGi9606.ENSP00000302562.

PTM databases

iPTMnetiQ96EW2.
PhosphoSiteiQ96EW2.

Polymorphism and mutation databases

BioMutaiHSPBAP1.
DMDMi74731618.

Proteomic databases

EPDiQ96EW2.
MaxQBiQ96EW2.
PaxDbiQ96EW2.
PRIDEiQ96EW2.

Protocols and materials databases

DNASUi79663.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000306103; ENSP00000302562; ENSG00000169087. [Q96EW2-1]
GeneIDi79663.
KEGGihsa:79663.
UCSCiuc003efu.3. human. [Q96EW2-1]

Organism-specific databases

CTDi79663.
GeneCardsiHSPBAP1.
HGNCiHGNC:16389. HSPBAP1.
HPAiHPA044930.
MIMi608263. gene.
neXtProtiNX_Q96EW2.
Orphaneti151. Familial renal cell carcinoma.
PharmGKBiPA29515.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2132. Eukaryota.
ENOG410XQDR. LUCA.
GeneTreeiENSGT00530000062914.
HOVERGENiHBG099816.
InParanoidiQ96EW2.
KOiK19375.
OMAiNCHYLNG.
OrthoDBiEOG7ZWD2P.
PhylomeDBiQ96EW2.
TreeFamiTF315056.

Miscellaneous databases

GenomeRNAii79663.
PROiQ96EW2.
SOURCEiSearch...

Gene expression databases

BgeeiQ96EW2.
CleanExiHS_HSPBAP1.
GenevisibleiQ96EW2. HS.

Family and domain databases

InterProiIPR013296. HSPB1-associated_protein_1.
IPR003347. JmjC_dom.
[Graphical view]
PRINTSiPR01886. PASS1.
SMARTiSM00558. JmjC. 1 hit.
[Graphical view]
PROSITEiPS51184. JMJC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH DIRC3.

Entry informationi

Entry nameiHBAP1_HUMAN
AccessioniPrimary (citable) accession number: Q96EW2
Secondary accession number(s): Q6P476
, Q8N8J4, Q8NHH6, Q8WWF0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: December 1, 2001
Last modified: June 8, 2016
This is version 106 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.