HBAP1_HUMAN
ID HBAP1_HUMAN Reviewed; 488 AA.
AC Q96EW2; Q6P476; Q8N8J4; Q8NHH6; Q8WWF0;
DT 17-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=HSPB1-associated protein 1;
DE AltName: Full=27 kDa heat shock protein-associated protein 1;
DE AltName: Full=Protein associated with small stress protein 1;
GN Name=HSPBAP1; Synonyms=PASS1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=11978969; DOI=10.1159/000057016;
RA Jiang M., Ma Y., Cheng H., Ni X., Guo L., Xie Y., Mao Y.;
RT "Molecular cloning and characterization of a novel human gene (HSPBAP1)
RT from human fetal brain.";
RL Cytogenet. Cell Genet. 95:48-51(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Lung, Ovary, and Prostate;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP INTERACTION WITH CRYAB AND HSPB1.
RX PubMed=10751411; DOI=10.1074/jbc.m001981200;
RA Liu C., Gilmont R.R., Benndorf R., Welsh M.J.;
RT "Identification and characterization of a novel protein from Sertoli cells,
RT PASS1, that associates with mammalian small stress protein hsp27.";
RL J. Biol. Chem. 275:18724-18731(2000).
RN [5]
RP CHROMOSOMAL TRANSLOCATION WITH DIRC3.
RX PubMed=12939738; DOI=10.1002/gcc.10243;
RA Bodmer D., Schepens M., Eleveld M.J., Schoenmakers E.F.P.M.,
RA Geurts van Kessel A.;
RT "Disruption of a novel gene, DIRC3, and expression of DIRC3-HSPBAP1 fusion
RT transcripts in a case of familial renal cell cancer and t(2;3)(q35;q21).";
RL Genes Chromosomes Cancer 38:107-116(2003).
CC -!- FUNCTION: May play a role in cellular stress response. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with CRYAB and HSPB1. {ECO:0000269|PubMed:10751411}.
CC -!- INTERACTION:
CC Q96EW2; Q12774: ARHGEF5; NbExp=6; IntAct=EBI-720457, EBI-602199;
CC Q96EW2; Q86Y26: NUTM1; NbExp=3; IntAct=EBI-720457, EBI-10178410;
CC Q96EW2; Q6IQ49: SDE2; NbExp=2; IntAct=EBI-720457, EBI-2362709;
CC Q96EW2-2; P55212: CASP6; NbExp=3; IntAct=EBI-25835621, EBI-718729;
CC Q96EW2-2; P22607: FGFR3; NbExp=3; IntAct=EBI-25835621, EBI-348399;
CC Q96EW2-2; P06396: GSN; NbExp=3; IntAct=EBI-25835621, EBI-351506;
CC Q96EW2-2; O00291: HIP1; NbExp=3; IntAct=EBI-25835621, EBI-473886;
CC Q96EW2-2; P04792: HSPB1; NbExp=3; IntAct=EBI-25835621, EBI-352682;
CC Q96EW2-2; O60333-2: KIF1B; NbExp=3; IntAct=EBI-25835621, EBI-10975473;
CC Q96EW2-2; P13473-2: LAMP2; NbExp=3; IntAct=EBI-25835621, EBI-21591415;
CC Q96EW2-2; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-25835621, EBI-5280197;
CC Q96EW2-2; O76024: WFS1; NbExp=3; IntAct=EBI-25835621, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96EW2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96EW2-2; Sequence=VSP_024442, VSP_024443;
CC Name=3;
CC IsoId=Q96EW2-3; Sequence=VSP_024444, VSP_024445;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11978969}.
CC -!- DISEASE: Note=A chromosomal aberration involving HSPBAP1 has been found
CC in a family with renal carcinoma (PubMed:12939738). Translocation
CC t(2;3)(q35;q21) with the putative pseudogene DIRC3 (PubMed:12939738).
CC Produces a hybrid mRNA encoding a truncated HSPBAP1 lacking the first
CC 36 amino acids (PubMed:12939738). {ECO:0000269|PubMed:12939738}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH17763.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/HSPBAP1ID513.html";
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DR EMBL; AF400663; AAM64044.1; -; mRNA.
DR EMBL; AK096705; BAC04847.1; -; mRNA.
DR EMBL; BC011897; AAH11897.1; -; mRNA.
DR EMBL; BC017763; AAH17763.1; ALT_INIT; mRNA.
DR EMBL; BC063629; AAH63629.1; -; mRNA.
DR CCDS; CCDS3017.1; -. [Q96EW2-1]
DR RefSeq; NP_001307657.1; NM_001320728.1.
DR RefSeq; NP_078886.2; NM_024610.5. [Q96EW2-1]
DR RefSeq; XP_005247819.1; XM_005247762.2. [Q96EW2-3]
DR AlphaFoldDB; Q96EW2; -.
DR SMR; Q96EW2; -.
DR BioGRID; 122788; 19.
DR IntAct; Q96EW2; 23.
DR MINT; Q96EW2; -.
DR STRING; 9606.ENSP00000302562; -.
DR iPTMnet; Q96EW2; -.
DR PhosphoSitePlus; Q96EW2; -.
DR BioMuta; HSPBAP1; -.
DR DMDM; 74731618; -.
DR EPD; Q96EW2; -.
DR jPOST; Q96EW2; -.
DR MassIVE; Q96EW2; -.
DR MaxQB; Q96EW2; -.
DR PaxDb; Q96EW2; -.
DR PeptideAtlas; Q96EW2; -.
DR PRIDE; Q96EW2; -.
DR ProteomicsDB; 76457; -. [Q96EW2-1]
DR ProteomicsDB; 76458; -. [Q96EW2-2]
DR ProteomicsDB; 76459; -. [Q96EW2-3]
DR Antibodypedia; 16790; 235 antibodies from 31 providers.
DR DNASU; 79663; -.
DR Ensembl; ENST00000306103.3; ENSP00000302562.2; ENSG00000169087.11. [Q96EW2-1]
DR GeneID; 79663; -.
DR KEGG; hsa:79663; -.
DR MANE-Select; ENST00000306103.3; ENSP00000302562.2; NM_024610.6; NP_078886.2.
DR UCSC; uc003efu.3; human. [Q96EW2-1]
DR CTD; 79663; -.
DR DisGeNET; 79663; -.
DR GeneCards; HSPBAP1; -.
DR HGNC; HGNC:16389; HSPBAP1.
DR HPA; ENSG00000169087; Low tissue specificity.
DR MalaCards; HSPBAP1; -.
DR MIM; 608263; gene.
DR neXtProt; NX_Q96EW2; -.
DR OpenTargets; ENSG00000169087; -.
DR Orphanet; 422526; Hereditary clear cell renal cell carcinoma.
DR PharmGKB; PA29515; -.
DR VEuPathDB; HostDB:ENSG00000169087; -.
DR eggNOG; KOG2132; Eukaryota.
DR GeneTree; ENSGT00940000159893; -.
DR HOGENOM; CLU_016785_5_1_1; -.
DR InParanoid; Q96EW2; -.
DR OMA; QRMMSKS; -.
DR PhylomeDB; Q96EW2; -.
DR TreeFam; TF315056; -.
DR PathwayCommons; Q96EW2; -.
DR SignaLink; Q96EW2; -.
DR BioGRID-ORCS; 79663; 10 hits in 1083 CRISPR screens.
DR ChiTaRS; HSPBAP1; human.
DR GenomeRNAi; 79663; -.
DR Pharos; Q96EW2; Tbio.
DR PRO; PR:Q96EW2; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q96EW2; protein.
DR Bgee; ENSG00000169087; Expressed in oocyte and 186 other tissues.
DR Genevisible; Q96EW2; HS.
DR GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-SubCell.
DR GO; GO:0016706; F:2-oxoglutarate-dependent dioxygenase activity; IBA:GO_Central.
DR InterPro; IPR041667; Cupin_8.
DR InterPro; IPR013296; HSPB1-associated_protein_1.
DR InterPro; IPR003347; JmjC_dom.
DR Pfam; PF13621; Cupin_8; 1.
DR PRINTS; PR01886; PASS1.
DR SMART; SM00558; JmjC; 1.
DR PROSITE; PS51184; JMJC; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Cytoplasm;
KW Reference proteome.
FT CHAIN 1..488
FT /note="HSPB1-associated protein 1"
FT /id="PRO_0000284113"
FT DOMAIN 124..288
FT /note="JmjC"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00538"
FT REGION 88..208
FT /note="Interaction with HSPB1"
FT /evidence="ECO:0000250"
FT REGION 369..415
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 191..225
FT /note="KRWHLFPPEDTPFLYPTRIPYEESSVFSKINVVNP -> LECNGMIIAPGPQ
FT AILLPQPLKYLGLQETMASLSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024442"
FT VAR_SEQ 226..488
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024443"
FT VAR_SEQ 250..280
FT /note="FVPRHWWHYVESIDPVTVSINSWIELEEDHL -> ERKWQEGTQLLLLVKRR
FT MDFGGRQSTRVIFI (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024444"
FT VAR_SEQ 281..488
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024445"
FT VARIANT 64
FT /note="S -> A (in dbSNP:rs16833517)"
FT /id="VAR_031703"
FT CONFLICT 46
FT /note="F -> L (in Ref. 2; BAC04847)"
FT /evidence="ECO:0000305"
FT CONFLICT 320
FT /note="V -> A (in Ref. 1; AAM64044)"
FT /evidence="ECO:0000305"
FT CONFLICT 456
FT /note="P -> PS (in Ref. 3; AAH17763)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 488 AA; 55167 MW; 504621FC6762F796 CRC64;
MAAGSEATTP VIVAAGAGGE EGEHVKPFKP EKAKEIIMSL QQPAIFCNMV FDWPARHWNA
KYLSQVLHGK QIRFRMGMKS MSTVPQFETT CNYVEATLEE FLTWNCDQSS ISGPFRDYDH
SKFWAYADYK YFVSLFEDKT DLFQDVKWSD FGFPGRNGQE STLWIGSLGA HTPCHLDSYG
CNLVFQVQGR KRWHLFPPED TPFLYPTRIP YEESSVFSKI NVVNPDLKRF PQFRKAQRHA
VTLSPGQVLF VPRHWWHYVE SIDPVTVSIN SWIELEEDHL ARVEEAITRM LVCALKTAEN
PQNTRAWLNP TEVEETSHAV NCCYLNAAVS AFFDRCRTSE VVEIQALRTD GEHMKKEELN
VCNHMEVGQT GSQNLTTGTD KPEAASPFGP DLVPVAQRSE EPPSERGGIF GSDGKDFVDK
DGEHFGKLHC AKRQQIMSNS ENAIEEQIAS NTTTTPQTFI STDDLLDCLV NPQVTRIVAQ
LLIQGRSL
