OFCC1_HUMAN
ID OFCC1_HUMAN Reviewed; 231 AA.
AC Q8IZS5; Q7Z2X5; Q8IUL6; Q8IUM1; Q8IZR9; Q8IZS1; Q8IZS3;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Orofacial cleft 1 candidate gene 1 protein;
DE AltName: Full=Orofacial clefting chromosomal breakpoint region candidate 1 protein;
GN Name=OFCC1; Synonyms=MRDS1;
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] (ISOFORMS 1 AND 3), NUCLEOTIDE SEQUENCE [MRNA]
RP OF 12-231 (ISOFORM 4), AND NUCLEOTIDE SEQUENCE [MRNA] OF 14-231 (ISOFORM
RP 5).
RC TISSUE=Brain, Hippocampus, and Placenta;
RA Matsumoto M., Weinberger D.R., Straub R.E.;
RT "Molecular cloning, sequencing, and characterization of a novel 500
RT kilobase gene (MRDS1) from 6p24, a Schizophrenia candidate region.";
RL Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 NUCLEOTIDE SEQUENCE [MRNA] OF 1-162 (ISOFORMS 1 AND 2), AND CHROMOSOMAL
RP REARRANGEMENT.
RC TISSUE=Placenta;
RX PubMed=15218257; DOI=10.1159/000078008;
RA Davies S.J., Wise C., Venkatesh B., Mirza G., Jefferson A., Volpi E.V.,
RA Ragoussis J.;
RT "Mapping of three translocation breakpoints associated with orofacial
RT clefting within 6p24 and identification of new transcripts within the
RT region.";
RL Cytogenet. Genome Res. 105:47-53(2004).
RN [5]
RP METHYLATION AT ARG-113 BY PRMT1, AND IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=23455924; DOI=10.1038/nmeth.2397;
RA Weimann M., Grossmann A., Woodsmith J., Ozkan Z., Birth P., Meierhofer D.,
RA Benlasfer N., Valovka T., Timmermann B., Wanker E.E., Sauer S., Stelzl U.;
RT "A Y2H-seq approach defines the human protein methyltransferase
RT interactome.";
RL Nat. Methods 10:339-342(2013).
CC -!- INTERACTION:
CC Q8IZS5; O60341: KDM1A; NbExp=2; IntAct=EBI-8477661, EBI-710124;
CC Q8IZS5; Q96CV9: OPTN; NbExp=3; IntAct=EBI-8477661, EBI-748974;
CC Q8IZS5; Q99873: PRMT1; NbExp=2; IntAct=EBI-8477661, EBI-78738;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q8IZS5-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IZS5-2; Sequence=VSP_033937, VSP_033941;
CC Name=3;
CC IsoId=Q8IZS5-3; Sequence=VSP_033938;
CC Name=4;
CC IsoId=Q8IZS5-4; Sequence=VSP_033939;
CC Name=5;
CC IsoId=Q8IZS5-5; Sequence=VSP_033940;
CC -!- DISEASE: Note=A chromosomal aberration involving OFCC1 is found in
CC patients with orofacial cleft. {ECO:0000269|PubMed:15218257}.
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; AF520800; AAN06675.1; -; mRNA.
DR EMBL; AF520803; AAN06678.1; -; mRNA.
DR EMBL; AF520805; AAN06680.1; -; mRNA.
DR EMBL; AF520806; AAN06681.1; -; mRNA.
DR EMBL; AF520808; AAN06683.1; -; mRNA.
DR EMBL; CH471087; EAW55244.1; -; Genomic_DNA.
DR EMBL; BC113541; AAI13542.1; -; mRNA.
DR EMBL; BC113543; AAI13544.1; -; mRNA.
DR EMBL; AF548113; AAN59915.1; -; mRNA.
DR EMBL; AY309094; AAP74970.1; -; mRNA.
DR AlphaFoldDB; Q8IZS5; -.
DR SMR; Q8IZS5; -.
DR IntAct; Q8IZS5; 14.
DR MINT; Q8IZS5; -.
DR STRING; 9606.ENSP00000419718; -.
DR iPTMnet; Q8IZS5; -.
DR BioMuta; OFCC1; -.
DR DMDM; 74750797; -.
DR PaxDb; Q8IZS5; -.
DR PRIDE; Q8IZS5; -.
DR UCSC; uc063lsm.1; human. [Q8IZS5-1]
DR GeneCards; OFCC1; -.
DR HGNC; HGNC:21017; OFCC1.
DR MIM; 614287; gene.
DR neXtProt; NX_Q8IZS5; -.
DR eggNOG; ENOG502QRVX; Eukaryota.
DR HOGENOM; CLU_1499657_0_0_1; -.
DR InParanoid; Q8IZS5; -.
DR PhylomeDB; Q8IZS5; -.
DR PathwayCommons; Q8IZS5; -.
DR SignaLink; Q8IZS5; -.
DR ChiTaRS; OFCC1; human.
DR Pharos; Q8IZS5; Tdark.
DR PRO; PR:Q8IZS5; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q8IZS5; protein.
DR Genevisible; Q8IZS5; HS.
DR GO; GO:0048471; C:perinuclear region of cytoplasm; IBA:GO_Central.
DR InterPro; IPR031390; OFCC1.
DR PANTHER; PTHR33862; PTHR33862; 1.
DR Pfam; PF15680; OFCC1; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Methylation;
KW Reference proteome.
FT CHAIN 1..231
FT /note="Orofacial cleft 1 candidate gene 1 protein"
FT /id="PRO_0000337138"
FT REGION 1..24
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 29..48
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 127..166
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 127..145
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 113
FT /note="Omega-N-methylarginine; by PRMT1"
FT /evidence="ECO:0000269|PubMed:23455924"
FT VAR_SEQ 1
FT /note="M -> MWITSLITMKDEDIFDLAGDPQDSLIPGPSPTPKQNPVCNEAFFGHQ
FT TFSLRETGLKSVHCQGQEAENM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15218257"
FT /id="VSP_033937"
FT VAR_SEQ 115..231
FT /note="DDDRIFYNRLTKLFDESRQGEPQDESGREETLNSEAPGSSNKSHEIHKEASE
FT ATTAHLEEFQRSQKTIILLGSSPLEQEIRSTSLHCMEDEMSHPWILLLKVTAVIRSRRY
FT YREQRF -> GSIPKKIGPCSMDYDPNLLEEDDELHSQGDSLTDHSVKGKSTVWRIGEA
FT EDYSQDISYLEELEEHRFSV (in isoform 3)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_033938"
FT VAR_SEQ 115..231
FT /note="DDDRIFYNRLTKLFDESRQGEPQDESGREETLNSEAPGSSNKSHEIHKEASE
FT ATTAHLEEFQRSQKTIILLGSSPLEQEIRSTSLHCMEDEMSHPWILLLKVTAVIRSRRY
FT YREQRF -> AF (in isoform 4)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_033939"
FT VAR_SEQ 115..231
FT /note="DDDRIFYNRLTKLFDESRQGEPQDESGREETLNSEAPGSSNKSHEIHKEASE
FT ATTAHLEEFQRSQKTIILLGSSPLEQEIRSTSLHCMEDEMSHPWILLLKVTAVIRSRRY
FT YREQRF -> GFEIRRGRPQRIHSYVTFKDW (in isoform 5)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_033940"
FT VAR_SEQ 115..137
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15218257"
FT /id="VSP_033941"
FT VARIANT 21
FT /note="S -> L (in dbSNP:rs9477310)"
FT /id="VAR_043621"
FT VARIANT 123
FT /note="R -> Q (in dbSNP:rs9383206)"
FT /id="VAR_043622"
FT VARIANT 145
FT /note="T -> I (in dbSNP:rs9477211)"
FT /id="VAR_043623"
FT CONFLICT 178
FT /note="S -> SP (in Ref. 1; AAN06680)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 231 AA; 26754 MW; DC56B4924B0C13C6 CRC64;
MEREKFQQKA LKQTKQKKSK SAEFLMVKED REATEGTGNP AFNMSSPDLS ACQTAEKKVI
RHDMPDRTLA AHQQKFRLPA SAEPKGNEYG RNYFDPLMDE EINPRQCATE VSREDDDRIF
YNRLTKLFDE SRQGEPQDES GREETLNSEA PGSSNKSHEI HKEASEATTA HLEEFQRSQK
TIILLGSSPL EQEIRSTSLH CMEDEMSHPW ILLLKVTAVI RSRRYYREQR F
