C2C4A_HUMAN
ID C2C4A_HUMAN Reviewed; 369 AA.
AC Q8NCU7;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 115.
DE RecName: Full=C2 calcium-dependent domain-containing protein 4A;
DE AltName: Full=Nuclear-localized factor 1;
DE AltName: Full=Protein FAM148A;
GN Name=C2CD4A; Synonyms=FAM148A, NLF1;
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].
RC TISSUE=Colon;
RA Guo J.H., Yu L.;
RL Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
RP FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=15527968; DOI=10.1016/j.gene.2004.07.027;
RA Warton K., Foster N.C., Gold W.A., Stanley K.K.;
RT "A novel gene family induced by acute inflammation in endothelial cells.";
RL Gene 342:85-95(2004).
CC -!- FUNCTION: May be involved in inflammatory process. May regulate cell
CC architecture and adhesion. {ECO:0000269|PubMed:15527968}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15527968}.
CC -!- TISSUE SPECIFICITY: Specifically expressed in endothelial cells.
CC {ECO:0000269|PubMed:15527968}.
CC -!- INDUCTION: Up-regulated by pro-inflammatory cytokines.
CC {ECO:0000269|PubMed:15527968}.
CC -!- SIMILARITY: Belongs to the C2CD4 family. {ECO:0000305}.
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DR EMBL; AF504646; AAM28197.1; -; mRNA.
DR EMBL; AC104590; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS32258.1; -.
DR RefSeq; NP_997205.2; NM_207322.2.
DR AlphaFoldDB; Q8NCU7; -.
DR SMR; Q8NCU7; -.
DR BioGRID; 126930; 24.
DR IntAct; Q8NCU7; 2.
DR MINT; Q8NCU7; -.
DR STRING; 9606.ENSP00000347712; -.
DR iPTMnet; Q8NCU7; -.
DR PhosphoSitePlus; Q8NCU7; -.
DR BioMuta; C2CD4A; -.
DR DMDM; 296434416; -.
DR MassIVE; Q8NCU7; -.
DR PaxDb; Q8NCU7; -.
DR PeptideAtlas; Q8NCU7; -.
DR PRIDE; Q8NCU7; -.
DR ProteomicsDB; 72949; -.
DR DNASU; 145741; -.
DR Ensembl; ENST00000355522.5; ENSP00000347712.5; ENSG00000198535.5.
DR GeneID; 145741; -.
DR KEGG; hsa:145741; -.
DR MANE-Select; ENST00000355522.5; ENSP00000347712.5; NM_207322.3; NP_997205.2.
DR UCSC; uc002ahf.4; human.
DR CTD; 145741; -.
DR DisGeNET; 145741; -.
DR GeneCards; C2CD4A; -.
DR HGNC; HGNC:33627; C2CD4A.
DR HPA; ENSG00000198535; Tissue enhanced (pituitary).
DR MIM; 610343; gene.
DR neXtProt; NX_Q8NCU7; -.
DR OpenTargets; ENSG00000198535; -.
DR PharmGKB; PA165478510; -.
DR VEuPathDB; HostDB:ENSG00000198535; -.
DR eggNOG; ENOG502S04T; Eukaryota.
DR GeneTree; ENSGT00940000163765; -.
DR HOGENOM; CLU_051964_0_0_1; -.
DR InParanoid; Q8NCU7; -.
DR OMA; CIPPRLM; -.
DR OrthoDB; 1439066at2759; -.
DR PhylomeDB; Q8NCU7; -.
DR TreeFam; TF330989; -.
DR PathwayCommons; Q8NCU7; -.
DR SignaLink; Q8NCU7; -.
DR BioGRID-ORCS; 145741; 14 hits in 1067 CRISPR screens.
DR GenomeRNAi; 145741; -.
DR Pharos; Q8NCU7; Tbio.
DR PRO; PR:Q8NCU7; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8NCU7; protein.
DR Bgee; ENSG00000198535; Expressed in islet of Langerhans and 102 other tissues.
DR Genevisible; Q8NCU7; HS.
DR GO; GO:0005730; C:nucleolus; IDA:HPA.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0002675; P:positive regulation of acute inflammatory response; IDA:UniProtKB.
DR GO; GO:0030155; P:regulation of cell adhesion; IDA:UniProtKB.
DR GO; GO:0002528; P:regulation of vascular permeability involved in acute inflammatory response; IDA:UniProtKB.
DR InterPro; IPR039208; C2_Ca-dependent_4.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR PANTHER; PTHR47226; PTHR47226; 1.
DR SUPFAM; SSF49562; SSF49562; 1.
DR PROSITE; PS50004; C2; 1.
PE 2: Evidence at transcript level;
KW Nucleus; Reference proteome.
FT CHAIN 1..369
FT /note="C2 calcium-dependent domain-containing protein 4A"
FT /id="PRO_0000324305"
FT DOMAIN 253..369
FT /note="C2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00041"
FT REGION 151..176
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 197..240
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 206..220
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CONFLICT 34
FT /note="T -> I (in Ref. 1; AAM28197)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 369 AA; 39744 MW; 4BA0583E0EA238F5 CRC64;
MWCLERLRLG PECLRRSGDW LLPGRARGAK SRTTAACANV LTPDRIPEFC IPPRLMPRLA
LAALRNSWVE EAGMDEGAGR TDWDPRSQAA LSLPHLPRVR TAYGFCALLE SPHTRRKESL
LLGGPPAPRP RAHTYGGGGG PDALLGTLRV PRAPGPATPA APGCPRPPQD ALARRPRGCR
LLRVPDGLLS RALRAGRSRR LTRVRSVSSG NEDKERRAGS QSPARAPSTS PPSSRVPFPE
RLEAEGTVAL GRAGDALRLA AEYCPGTGRL RLRLLRAESP AGGAPGPRAV SCRLSLVLRP
PGTALRQCST VVGRSRKASF DQDFCFDGLS EDEVRRLAVR VKARDEGRGR ERGRLLGQGE
LSLGALLLL
