UBAC2_HUMAN
ID UBAC2_HUMAN Reviewed; 344 AA.
AC Q8NBM4; B3KNV7; Q0VAB5; Q5W0W6; Q5W0W9; Q6GQR2; Q6P4B0; Q8N2E8; Q96NW2;
DT 20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 159.
DE RecName: Full=Ubiquitin-associated domain-containing protein 2;
DE Short=UBA domain-containing protein 2;
DE AltName: Full=Phosphoglycerate dehydrogenase-like protein 1;
DE Flags: Precursor;
GN Name=UBAC2; Synonyms=PHGDHL1; ORFNames=PSEC0110;
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 [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC TISSUE=Brain;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Embryo, and Placenta;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-length
RT human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA
RT libraries.";
RL DNA Res. 12:117-126(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057823; DOI=10.1038/nature02379;
RA Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L.,
RA Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S.,
RA Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P.,
RA Ambrose K.D., Andrews D.T., Ashwell R.I.S., Babbage A.K., Bagguley C.L.,
RA Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P.,
RA Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C.,
RA Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P.,
RA Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L.,
RA Frankish A.G., Frankland J., French L., Garner P., Garnett J.,
RA Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M.,
RA Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D.,
RA Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D.,
RA Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S.,
RA Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S.,
RA Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R.,
RA Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W.,
RA Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L.,
RA Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R.,
RA Rogers J., Ross M.T.;
RT "The DNA sequence and analysis of human chromosome 13.";
RL Nature 428:522-528(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 54-344 (ISOFORM 1).
RC TISSUE=Blood, and Placenta;
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 [5]
RP FUNCTION, INTERACTION WITH FAF2, AND SUBCELLULAR LOCATION.
RX PubMed=23297223; DOI=10.1073/pnas.1213738110;
RA Olzmann J.A., Richter C.M., Kopito R.R.;
RT "Spatial regulation of UBXD8 and p97/VCP controls ATGL-mediated lipid
RT droplet turnover.";
RL Proc. Natl. Acad. Sci. U.S.A. 110:1345-1350(2013).
RN [6]
RP FUNCTION, AND INTERACTION WITH LMBR1L.
RX PubMed=31073040; DOI=10.1126/science.aau0812;
RA Choi J.H., Zhong X., McAlpine W., Liao T.C., Zhang D., Fang B., Russell J.,
RA Ludwig S., Nair-Gill E., Zhang Z., Wang K.W., Misawa T., Zhan X., Choi M.,
RA Wang T., Li X., Tang M., Sun Q., Yu L., Murray A.R., Moresco E.M.Y.,
RA Beutler B.;
RT "LMBR1L regulates lymphopoiesis through Wnt/beta-catenin signaling.";
RL Science 364:0-0(2019).
CC -!- FUNCTION: Restricts trafficking of FAF2 from the endoplasmic reticulum
CC to lipid droplets (PubMed:23297223). In association with LMBR1L and E3
CC ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt
CC signaling pathway in the lymphocytes by promoting the ubiquitin-
CC mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6
CC (PubMed:31073040). {ECO:0000269|PubMed:23297223,
CC ECO:0000269|PubMed:31073040}.
CC -!- SUBUNIT: Interacts with FAF2 (PubMed:23297223). Interacts with LMBR1L
CC (PubMed:31073040). Interacts with AMFR and VCP (By similarity).
CC {ECO:0000250|UniProtKB:Q8R1K1, ECO:0000269|PubMed:23297223,
CC ECO:0000305|PubMed:31073040}.
CC -!- INTERACTION:
CC Q8NBM4; Q13137: CALCOCO2; NbExp=3; IntAct=EBI-724045, EBI-739580;
CC Q8NBM4; Q96CS3: FAF2; NbExp=7; IntAct=EBI-724045, EBI-1055805;
CC Q8NBM4-4; Q14203-5: DCTN1; NbExp=3; IntAct=EBI-25840976, EBI-25840379;
CC Q8NBM4-4; P04792: HSPB1; NbExp=3; IntAct=EBI-25840976, EBI-352682;
CC Q8NBM4-4; O60333-2: KIF1B; NbExp=3; IntAct=EBI-25840976, EBI-10975473;
CC Q8NBM4-4; O60260-5: PRKN; NbExp=3; IntAct=EBI-25840976, EBI-21251460;
CC Q8NBM4-4; Q9Y3C5: RNF11; NbExp=3; IntAct=EBI-25840976, EBI-396669;
CC Q8NBM4-4; O76024: WFS1; NbExp=3; IntAct=EBI-25840976, EBI-720609;
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane
CC {ECO:0000269|PubMed:23297223}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8NBM4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NBM4-2; Sequence=VSP_023911, VSP_023912;
CC Name=3;
CC IsoId=Q8NBM4-3; Sequence=VSP_023910;
CC Name=4;
CC IsoId=Q8NBM4-4; Sequence=VSP_023909;
CC Name=5;
CC IsoId=Q8NBM4-5; Sequence=VSP_023913, VSP_023914;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH72674.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=AAI21139.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK054563; BAB70757.1; -; mRNA.
DR EMBL; AK055110; BAG51469.1; -; mRNA.
DR EMBL; AK075419; BAC11609.1; -; mRNA.
DR EMBL; AK075516; BAC11665.1; -; mRNA.
DR EMBL; AL136961; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL159981; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL160155; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC063559; AAH63559.1; -; mRNA.
DR EMBL; BC072674; AAH72674.1; ALT_INIT; mRNA.
DR EMBL; BC121138; AAI21139.1; ALT_INIT; mRNA.
DR EMBL; BC121139; AAI21140.1; -; mRNA.
DR CCDS; CCDS45064.1; -. [Q8NBM4-1]
DR CCDS; CCDS9490.1; -. [Q8NBM4-2]
DR RefSeq; NP_001137544.1; NM_001144072.1. [Q8NBM4-1]
DR RefSeq; NP_808882.1; NM_177967.3. [Q8NBM4-2]
DR RefSeq; XP_006720011.1; XM_006719948.3. [Q8NBM4-3]
DR RefSeq; XP_011519386.1; XM_011521084.2.
DR AlphaFoldDB; Q8NBM4; -.
DR SMR; Q8NBM4; -.
DR BioGRID; 130617; 201.
DR IntAct; Q8NBM4; 76.
DR MINT; Q8NBM4; -.
DR STRING; 9606.ENSP00000383911; -.
DR GlyGen; Q8NBM4; 2 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q8NBM4; -.
DR PhosphoSitePlus; Q8NBM4; -.
DR SwissPalm; Q8NBM4; -.
DR BioMuta; UBAC2; -.
DR DMDM; 74751173; -.
DR EPD; Q8NBM4; -.
DR jPOST; Q8NBM4; -.
DR MassIVE; Q8NBM4; -.
DR MaxQB; Q8NBM4; -.
DR PaxDb; Q8NBM4; -.
DR PeptideAtlas; Q8NBM4; -.
DR PRIDE; Q8NBM4; -.
DR ProteomicsDB; 72792; -. [Q8NBM4-1]
DR ProteomicsDB; 72793; -. [Q8NBM4-2]
DR ProteomicsDB; 72794; -. [Q8NBM4-3]
DR ProteomicsDB; 72795; -. [Q8NBM4-4]
DR ProteomicsDB; 72796; -. [Q8NBM4-5]
DR Antibodypedia; 10857; 101 antibodies from 19 providers.
DR DNASU; 337867; -.
DR Ensembl; ENST00000376440.6; ENSP00000365623.2; ENSG00000134882.16. [Q8NBM4-2]
DR Ensembl; ENST00000403766.8; ENSP00000383911.3; ENSG00000134882.16. [Q8NBM4-1]
DR GeneID; 337867; -.
DR KEGG; hsa:337867; -.
DR MANE-Select; ENST00000403766.8; ENSP00000383911.3; NM_001144072.2; NP_001137544.1.
DR UCSC; uc001voa.5; human. [Q8NBM4-1]
DR CTD; 337867; -.
DR DisGeNET; 337867; -.
DR GeneCards; UBAC2; -.
DR HGNC; HGNC:20486; UBAC2.
DR HPA; ENSG00000134882; Low tissue specificity.
DR MalaCards; UBAC2; -.
DR neXtProt; NX_Q8NBM4; -.
DR OpenTargets; ENSG00000134882; -.
DR Orphanet; 117; Behcet disease.
DR PharmGKB; PA162407839; -.
DR VEuPathDB; HostDB:ENSG00000134882; -.
DR eggNOG; KOG4463; Eukaryota.
DR GeneTree; ENSGT00950000182999; -.
DR HOGENOM; CLU_057710_0_0_1; -.
DR InParanoid; Q8NBM4; -.
DR OMA; KVHQVLC; -.
DR OrthoDB; 1422113at2759; -.
DR PhylomeDB; Q8NBM4; -.
DR TreeFam; TF333335; -.
DR PathwayCommons; Q8NBM4; -.
DR SignaLink; Q8NBM4; -.
DR BioGRID-ORCS; 337867; 16 hits in 1076 CRISPR screens.
DR ChiTaRS; UBAC2; human.
DR GenomeRNAi; 337867; -.
DR Pharos; Q8NBM4; Tbio.
DR PRO; PR:Q8NBM4; -.
DR Proteomes; UP000005640; Chromosome 13.
DR RNAct; Q8NBM4; protein.
DR Bgee; ENSG00000134882; Expressed in lower esophagus mucosa and 169 other tissues.
DR ExpressionAtlas; Q8NBM4; baseline and differential.
DR Genevisible; Q8NBM4; HS.
DR GO; GO:0005783; C:endoplasmic reticulum; IDA:MGI.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; IMP:UniProtKB.
DR GO; GO:1904153; P:negative regulation of retrograde protein transport, ER to cytosol; IMP:ParkinsonsUK-UCL.
DR GO; GO:0070972; P:protein localization to endoplasmic reticulum; IDA:MGI.
DR GO; GO:0016055; P:Wnt signaling pathway; IEA:UniProtKB-KW.
DR CDD; cd14305; UBA_UBAC2; 1.
DR Gene3D; 1.20.1540.10; -; 1.
DR InterPro; IPR035952; Rhomboid-like_sf.
DR InterPro; IPR015940; UBA.
DR InterPro; IPR009060; UBA-like_sf.
DR InterPro; IPR041928; UBA_UBAC2.
DR Pfam; PF00627; UBA; 1.
DR SMART; SM00165; UBA; 1.
DR SUPFAM; SSF144091; SSF144091; 1.
DR SUPFAM; SSF46934; SSF46934; 1.
DR PROSITE; PS50030; UBA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Endoplasmic reticulum; Glycoprotein; Membrane;
KW Reference proteome; Signal; Transmembrane; Transmembrane helix;
KW Wnt signaling pathway.
FT SIGNAL 1..35
FT /evidence="ECO:0000255"
FT CHAIN 36..344
FT /note="Ubiquitin-associated domain-containing protein 2"
FT /id="PRO_0000280754"
FT TOPO_DOM 36..91
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 92..112
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 113..125
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 126..146
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 147..163
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 164..184
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 185..344
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT DOMAIN 304..344
FT /note="UBA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00212"
FT CARBOHYD 161
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..187
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_023909"
FT VAR_SEQ 1..113
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_023910"
FT VAR_SEQ 1..35
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023911"
FT VAR_SEQ 36..130
FT /note="HCQKLFVYDLHAVKNDFQIWRLICGRIICLDLKDTFCSSLLIYNFRIFERRY
FT GSRKFASFLLGSWVLSALFDFLLIEAMQYFFGITAASNLPSGF -> MCFFFSLQEEFL
FT DKHTLMRVLSSGGKLGSRGEGAQLCCWMLLFSWRVSGGQQTRRLCRRAFCWSPVPSPSC
FT SPSSCLTARSSLCMTFTQSRTTSS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_023912"
FT VAR_SEQ 54..141
FT /note="IWRLICGRIICLDLKDTFCSSLLIYNFRIFERRYGSRKFASFLLGSWVLSAL
FT FDFLLIEAMQYFFGITAASNLPSGFLAPVFALFVPF -> PGTCVCSVCTILLLHTKSP
FT SGTNSGSVVHHKQDIDLYIGTAAFHLWFLHLDCSHKWTYVRSVLRQQNVPGASGALHPQ
FT LDGKILFLDT (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_023913"
FT VAR_SEQ 142..344
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_023914"
SQ SEQUENCE 344 AA; 38964 MW; A8C5D4D68B64CEB3 CRC64;
MFTSTGSSGL YKAPLSKSLL LVPSALSLLL ALLLPHCQKL FVYDLHAVKN DFQIWRLICG
RIICLDLKDT FCSSLLIYNF RIFERRYGSR KFASFLLGSW VLSALFDFLL IEAMQYFFGI
TAASNLPSGF LAPVFALFVP FYCSIPRVQV AQILGPLSIT NKTLIYILGL QLFTSGSYIW
IVAISGLMSG LCYDSKMFQV HQVLCIPSWM AKFFSWTLEP IFSSSEPTSE ARIGMGATLD
IQRQQRMELL DRQLMFSQFA QGRRQRQQQG GMINWNRLFP PLRQRQNVNY QGGRQSEPAA
PPLEVSEEQV ARLMEMGFSR GDALEALRAS NNDLNVATNF LLQH
