Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

HSPB1-associated protein 1

Gene

HSPBAP1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

EuPathDBiHostDB:ENSG00000169087.10
HGNCiHGNC:16389 HSPBAP1
MIMi608263 gene
neXtProtiNX_Q96EW2

Subcellular locationi

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).1 Publication

Organism-specific databases

DisGeNETi79663
MalaCardsiHSPBAP1
OpenTargetsiENSG00000169087
Orphaneti422526 Hereditary clear cell renal cell carcinoma
PharmGKBiPA29515

Polymorphism and mutation databases

BioMutaiHSPBAP1
DMDMi74731618

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002841131 – 488HSPB1-associated protein 1Add BLAST488

Proteomic databases

EPDiQ96EW2
MaxQBiQ96EW2
PaxDbiQ96EW2
PeptideAtlasiQ96EW2
PRIDEiQ96EW2
ProteomicsDBi76457
76458 [Q96EW2-2]
76459 [Q96EW2-3]

PTM databases

iPTMnetiQ96EW2
PhosphoSitePlusiQ96EW2

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000169087 Expressed in 207 organ(s), highest expression level in oocyte
CleanExiHS_HSPBAP1
GenevisibleiQ96EW2 HS

Organism-specific databases

HPAiHPA044930

Interactioni

Subunit structurei

Interacts with CRYAB and HSPB1.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi122788, 8 interactors
IntActiQ96EW2, 4 interactors
MINTiQ96EW2
STRINGi9606.ENSP00000302562

Structurei

3D structure databases

ProteinModelPortaliQ96EW2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini124 – 288JmjCPROSITE-ProRule annotationAdd BLAST165

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni88 – 208Interaction with HSPB1By similarityAdd BLAST121

Phylogenomic databases

eggNOGiKOG2132 Eukaryota
ENOG410XQDR LUCA
GeneTreeiENSGT00530000062914
HOVERGENiHBG099816
InParanoidiQ96EW2
KOiK19375
OMAiGRESTLW
OrthoDBiEOG091G0DDY
PhylomeDBiQ96EW2
TreeFamiTF315056

Family and domain databases

InterProiView protein in InterPro
IPR013296 HSPB1-associated_protein_1
IPR003347 JmjC_dom
PRINTSiPR01886 PASS1
SMARTiView protein in SMART
SM00558 JmjC, 1 hit
PROSITEiView protein in PROSITE
PS51184 JMJC, 1 hit

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 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti46F → L in BAC04847 (PubMed:14702039).Curated1
Sequence conflicti320V → A in AAM64044 (PubMed:11978969).Curated1
Sequence conflicti456P → PS in AAH17763 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03170364S → A. Corresponds to variant dbSNP:rs16833517Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024442191 – 225KRWHL…NVVNP → LECNGMIIAPGPQAILLPQP LKYLGLQETMASLSS in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_024443226 – 488Missing in isoform 2. 1 PublicationAdd BLAST263
Alternative sequenceiVSP_024444250 – 280FVPRH…EEDHL → ERKWQEGTQLLLLVKRRMDF GGRQSTRVIFI in isoform 3. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_024445281 – 488Missing in isoform 3. 1 PublicationAdd BLAST208

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_005247762.2 [Q96EW2-3]
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

Similar proteinsi

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_005247762.2 [Q96EW2-3]
UniGeneiHs.29169

3D structure databases

ProteinModelPortaliQ96EW2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122788, 8 interactors
IntActiQ96EW2, 4 interactors
MINTiQ96EW2
STRINGi9606.ENSP00000302562

PTM databases

iPTMnetiQ96EW2
PhosphoSitePlusiQ96EW2

Polymorphism and mutation databases

BioMutaiHSPBAP1
DMDMi74731618

Proteomic databases

EPDiQ96EW2
MaxQBiQ96EW2
PaxDbiQ96EW2
PeptideAtlasiQ96EW2
PRIDEiQ96EW2
ProteomicsDBi76457
76458 [Q96EW2-2]
76459 [Q96EW2-3]

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
DisGeNETi79663
EuPathDBiHostDB:ENSG00000169087.10
GeneCardsiHSPBAP1
HGNCiHGNC:16389 HSPBAP1
HPAiHPA044930
MalaCardsiHSPBAP1
MIMi608263 gene
neXtProtiNX_Q96EW2
OpenTargetsiENSG00000169087
Orphaneti422526 Hereditary clear cell renal cell carcinoma
PharmGKBiPA29515
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2132 Eukaryota
ENOG410XQDR LUCA
GeneTreeiENSGT00530000062914
HOVERGENiHBG099816
InParanoidiQ96EW2
KOiK19375
OMAiGRESTLW
OrthoDBiEOG091G0DDY
PhylomeDBiQ96EW2
TreeFamiTF315056

Miscellaneous databases

ChiTaRSiHSPBAP1 human
GenomeRNAii79663
PROiPR:Q96EW2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169087 Expressed in 207 organ(s), highest expression level in oocyte
CleanExiHS_HSPBAP1
GenevisibleiQ96EW2 HS

Family and domain databases

InterProiView protein in InterPro
IPR013296 HSPB1-associated_protein_1
IPR003347 JmjC_dom
PRINTSiPR01886 PASS1
SMARTiView protein in SMART
SM00558 JmjC, 1 hit
PROSITEiView protein in PROSITE
PS51184 JMJC, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHBAP1_HUMAN
AccessioniPrimary (citable) accession number: Q96EW2
Secondary accession number(s): Q6P476
, Q8N8J4, Q8NHH6, Q8WWF0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: December 1, 2001
Last modified: November 7, 2018
This is version 121 of the entry and version 1 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again