UH1BL_HUMAN
ID UH1BL_HUMAN Reviewed; 1464 AA.
AC A0JNW5; A0PJE5; O75183; Q8NDL1; Q96C30; Q9BTS5; Q9H0F1;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=UHRF1-binding protein 1-like {ECO:0000312|HGNC:HGNC:29102};
DE AltName: Full=Syntaxin-6 Habc-interacting protein of 164 kDa {ECO:0000303|PubMed:20163565};
GN Name=UHRF1BP1L {ECO:0000312|HGNC:HGNC:29102};
GN Synonyms=KIAA0701 {ECO:0000312|EMBL:BAA31676.2},
GN SHIP164 {ECO:0000303|PubMed:20163565};
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 1 AND 2), AND VARIANT
RP LEU-1147.
RC TISSUE=Placenta, and Uterus;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 111-1464 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=9734811; DOI=10.1093/dnares/5.3.169;
RA Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H.,
RA Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. X. The
RT complete sequences of 100 new cDNA clones from brain which can code for
RT large proteins in vitro.";
RL DNA Res. 5:169-176(1998).
RN [3]
RP SEQUENCE REVISION.
RX PubMed=12168954; DOI=10.1093/dnares/9.3.99;
RA Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.;
RT "Construction of expression-ready cDNA clones for KIAA genes: manual
RT curation of 330 KIAA cDNA clones.";
RL DNA Res. 9:99-106(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 323-1464 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 440-1464 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [7]
RP SUBUNIT, INTERACTION WITH STX6, ASSOCIATION WITH THE GARP COMPLEX,
RP SUBCELLULAR LOCATION, AND IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=20163565; DOI=10.1111/j.1600-0854.2010.01049.x;
RA Otto G.P., Razi M., Morvan J., Stenner F., Tooze S.A.;
RT "A novel syntaxin 6-interacting protein, SHIP164, regulates syntaxin 6-
RT dependent sorting from early endosomes.";
RL Traffic 11:688-705(2010).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-774, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [10]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-414 AND SER-418, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- SUBUNIT: Monomer. Homodimer (via N-terminus). Associates with the
CC Golgi-associated retrograde protein (GARP) complex. Interacts with GARP
CC complex component VPS52. Interacts (via C-terminal coiled-coil domain)
CC with STX6. {ECO:0000269|PubMed:20163565}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20163565}.
CC Early endosome {ECO:0000269|PubMed:20163565}. Note=Primarily cytosolic.
CC Recruited to early endosomes following STX6 overexpression.
CC Overexpression of both STX6 and UHRF1BP1L results in aberrant
CC tubulation of endosomal membranes. {ECO:0000269|PubMed:20163565}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=A0JNW5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A0JNW5-2; Sequence=VSP_027014, VSP_027015;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI27018.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=CAB66755.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; BC003391; AAH03391.1; -; mRNA.
DR EMBL; BC014891; AAH14891.1; -; mRNA.
DR EMBL; BC127017; AAI27018.1; ALT_FRAME; mRNA.
DR EMBL; BC026286; AAH26286.1; -; mRNA.
DR EMBL; AB014601; BAA31676.2; -; mRNA.
DR EMBL; AL136821; CAB66755.1; ALT_INIT; mRNA.
DR EMBL; AL833850; CAD38709.1; -; mRNA.
DR CCDS; CCDS31882.1; -. [A0JNW5-1]
DR CCDS; CCDS31883.1; -. [A0JNW5-2]
DR PIR; T00352; T00352.
DR RefSeq; NP_001006948.1; NM_001006947.1. [A0JNW5-2]
DR RefSeq; NP_055869.1; NM_015054.1. [A0JNW5-1]
DR AlphaFoldDB; A0JNW5; -.
DR SMR; A0JNW5; -.
DR BioGRID; 116706; 59.
DR IntAct; A0JNW5; 20.
DR MINT; A0JNW5; -.
DR STRING; 9606.ENSP00000279907; -.
DR iPTMnet; A0JNW5; -.
DR PhosphoSitePlus; A0JNW5; -.
DR BioMuta; UHRF1BP1L; -.
DR EPD; A0JNW5; -.
DR jPOST; A0JNW5; -.
DR MassIVE; A0JNW5; -.
DR MaxQB; A0JNW5; -.
DR PaxDb; A0JNW5; -.
DR PeptideAtlas; A0JNW5; -.
DR PRIDE; A0JNW5; -.
DR ProteomicsDB; 41; -. [A0JNW5-1]
DR ProteomicsDB; 42; -. [A0JNW5-2]
DR Antibodypedia; 30285; 138 antibodies from 25 providers.
DR DNASU; 23074; -.
DR Ensembl; ENST00000279907.12; ENSP00000279907.7; ENSG00000111647.13. [A0JNW5-1]
DR Ensembl; ENST00000356828.7; ENSP00000349285.3; ENSG00000111647.13. [A0JNW5-2]
DR GeneID; 23074; -.
DR KEGG; hsa:23074; -.
DR MANE-Select; ENST00000279907.12; ENSP00000279907.7; NM_015054.2; NP_055869.1.
DR UCSC; uc001tgp.4; human. [A0JNW5-1]
DR CTD; 23074; -.
DR DisGeNET; 23074; -.
DR GeneCards; UHRF1BP1L; -.
DR HGNC; HGNC:29102; UHRF1BP1L.
DR HPA; ENSG00000111647; Low tissue specificity.
DR MIM; 619811; gene.
DR neXtProt; NX_A0JNW5; -.
DR OpenTargets; ENSG00000111647; -.
DR PharmGKB; PA162408577; -.
DR VEuPathDB; HostDB:ENSG00000111647; -.
DR eggNOG; KOG2955; Eukaryota.
DR GeneTree; ENSGT00600000084428; -.
DR HOGENOM; CLU_004782_0_0_1; -.
DR InParanoid; A0JNW5; -.
DR OMA; AGDSCDH; -.
DR OrthoDB; 64302at2759; -.
DR PhylomeDB; A0JNW5; -.
DR TreeFam; TF314874; -.
DR PathwayCommons; A0JNW5; -.
DR Reactome; R-HSA-9696270; RND2 GTPase cycle.
DR SignaLink; A0JNW5; -.
DR BioGRID-ORCS; 23074; 12 hits in 1074 CRISPR screens.
DR ChiTaRS; UHRF1BP1L; human.
DR GenomeRNAi; 23074; -.
DR Pharos; A0JNW5; Tbio.
DR PRO; PR:A0JNW5; -.
DR Proteomes; UP000005640; Chromosome 12.
DR RNAct; A0JNW5; protein.
DR Bgee; ENSG00000111647; Expressed in cartilage tissue and 193 other tissues.
DR ExpressionAtlas; A0JNW5; baseline and differential.
DR Genevisible; A0JNW5; HS.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0005769; C:early endosome; IDA:UniProtKB.
DR GO; GO:0062069; F:GARP complex binding; IDA:UniProtKB.
DR GO; GO:0042803; F:protein homodimerization activity; IPI:UniProtKB.
DR InterPro; IPR026728; UHRF1BP1-like.
DR InterPro; IPR026854; VPS13-like_N.
DR PANTHER; PTHR22774; PTHR22774; 1.
DR Pfam; PF12624; Chorein_N; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Cytoplasm; Endosome; Phosphoprotein;
KW Reference proteome.
FT CHAIN 1..1464
FT /note="UHRF1-binding protein 1-like"
FT /id="PRO_0000295719"
FT DOMAIN 3..94
FT /note="Chorein N-terminal"
FT /evidence="ECO:0000255"
FT REGION 267..297
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 409..436
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1066..1089
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1164..1183
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1392..1413
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 1418..1456
FT /evidence="ECO:0000255"
FT COMPBIAS 273..297
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 416..436
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1072..1086
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 414
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 418
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 774
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 935
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2RSJ4"
FT MOD_RES 1009
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:A2RSJ4"
FT VAR_SEQ 517..522
FT /note="IPSPNL -> TAFLSR (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027014"
FT VAR_SEQ 523..1464
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027015"
FT VARIANT 1111
FT /note="M -> L (in dbSNP:rs58214704)"
FT /id="VAR_061719"
FT VARIANT 1147
FT /note="S -> L (in dbSNP:rs7296162)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_051467"
FT VARIANT 1175
FT /note="I -> V (in dbSNP:rs17029945)"
FT /id="VAR_051468"
FT CONFLICT 283
FT /note="T -> I (in Ref. 1; AAH14891)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1464 AA; 164199 MW; 5FBED173B50F16B9 CRC64;
MAGIIKKQIL KHLSRFTKNL SPDKINLSTL KGEGELKNLE LDEEVLQNML DLPTWLAINK
VFCNKASIRI PWTKLKTHPI CLSLDKVIME MSTCEEPRSP NGPSPIATAS GQSEYGFAEK
VVEGISVSVN SIVIRIGAKA FNASFELSQL RIYSVNAHWE HGDLRFTRIQ DPQRGEVLTF
KEINWQMIRI EADATQSSHL EIMCAPVRLI TNQSKIRVTL KRRLKDCNVI ATKLVLILDD
LLWVLTDSQL KAMVQYAKSL SEAIEKSTEQ RKSMAPEPTQ SSTVVASAQQ VKTTQTSNAP
DVNDAIVKLF NDFDVKETSH HLVISHLDLH ICDDIHAKEK ESNRRITGGA MQLSFTQLTI
DYYPYHKAGD SCNHWMYFSD ATKTKNGWAN ELLHEFECNV EMLKQAVKDH NVGSPPKSPT
HASPQHTQTE KDYPLKGTCR TPSVLSQQSK AKLMSSSVVV RLADFNIYQV STAEQCRSSP
KSMICCNKKS LYLPQEMSAV YIEFTEYYYP DGKDFPIPSP NLYSQLNALQ FTVDERSILW
LNQFLLDLKQ SLNQFMAVYK LNDNSKSDEH VDVRVDGLML KFVIPSEVKS ECHQDQPRAI
SIQSSEMIAT NTRHCPNCRH SDLEALFQDF KDCDFFSKTY TSFPKSCDNF NLLHPIFQRH
AHEQDTKMHE IYKGNITPQL NKNTLKTSAA TDVWAVYFSQ FWIDYEGMKS GKGRPISFVD
SFPLSIWICQ PTRYAESQKE PQTCNQVSLN TSQSESSDLA GRLKRKKLLK EYYSTESEPL
TNGGQKPSSS DTFFRFSPSS SEADIHLLVH VHKHVSMQIN HYQYLLLLFL HESLILLSEN
LRKDVEAVTG SPASQTSICI GILLRSAELA LLLHPVDQAN TLKSPVSESV SPVVPDYLPT
ENGDFLSSKR KQISRDINRI RSVTVNHMSD NRSMSVDLSH IPLKDPLLFK SASDTNLQKG
ISFMDYLSDK HLGKISEDES SGLVYKSGSG EIGSETSDKK DSFYTDSSSI LNYREDSNIL
SFDSDGNQNI LSSTLTSKGN ETIESIFKAE DLLPEAASLS ENLDISKEET PPVRTLKSQS
SLSGKPKERC PPNLAPLCVS YKNMKRSSSQ MSLDTISLDS MILEEQLLES DGSDSHMFLE
KGNKKNSTTN YRGTAESVNA GANLQNYGET SPDAISTNSE GAQENHDDLM SVVVFKITGV
NGEIDIRGED TEICLQVNQV TPDQLGNISL RHYLCNRPVG SDQKAVIHSK SSPEISLRFE
SGPGAVIHSL LAEKNGFLQC HIENFSTEFL TSSLMNIQHF LEDETVATVM PMKIQVSNTK
INLKDDSPRS STVSLEPAPV TVHIDHLVVE RSDDGSFHIR DSHMLNTGND LKENVKSDSV
LLTSGKYDLK KQRSVTQATQ TSPGVPWPSQ SANFPEFSFD FTREQLMEEN ESLKQELAKA
KMALAEAHLE KDALLHHIKK MTVE
