CARTF_HUMAN
ID CARTF_HUMAN Reviewed; 725 AA.
AC Q8N187; B4E1W7; G3V1K7; Q8ND29; Q8WXC0; Q96J78; Q96Q38; Q96Q39; Q9H712;
DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 10-JAN-2006, sequence version 2.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Calcium-responsive transcription factor;
DE AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein;
DE AltName: Full=Calcium-response factor;
DE Short=CaRF;
DE AltName: Full=Testis development protein NYD-SP24;
GN Name=CARF; Synonyms=ALS2CR8;
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 2).
RX PubMed=11586298; DOI=10.1038/ng1001-166;
RA Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S.,
RA Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A.,
RA Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr.,
RA Scherer S.W., Rouleau G.A., Hayden M.R., Ikeda J.-E.;
RT "A gene encoding a putative GTPase regulator is mutated in familial
RT amyotrophic lateral sclerosis 2.";
RL Nat. Genet. 29:166-173(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RA Sha J.H.;
RT "NYD-SP24: cloning a novel gene related to testis development from human
RT testis.";
RL Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND DNA-BINDING.
RX PubMed=11832226; DOI=10.1016/s0896-6273(01)00561-x;
RA Tao X., West A.E., Chen W.G., Corfas G., Greenberg M.E.;
RT "A calcium-responsive transcription factor, CaRF, that regulates neuronal
RT activity-dependent expression of BDNF.";
RL Neuron 33:383-395(2002).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 29-301 (ISOFORM 1).
RC TISSUE=Colon, and Trachea;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [6]
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-278 (ISOFORM 1).
RC TISSUE=Lymph node;
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 [9]
RP FUNCTION.
RX PubMed=22174809; DOI=10.1371/journal.pone.0028441;
RA Zheng F., Zhou X., Luo Y., Xiao H., Wayman G., Wang H.;
RT "Regulation of brain-derived neurotrophic factor exon IV transcription
RT through calcium responsive elements in cortical neurons.";
RL PLoS ONE 6:E28441-E28441(2011).
CC -!- FUNCTION: Acts as a transcriptional activator that mediates the
CC calcium- and neuron-selective induction of BDNF exon III transcription.
CC Binds to the consensus calcium-response element CaRE1 5'-CTATTTCGAG-3'
CC sequence. {ECO:0000269|PubMed:11832226, ECO:0000269|PubMed:22174809}.
CC -!- INTERACTION:
CC Q8N187; Q53EZ4: CEP55; NbExp=3; IntAct=EBI-745541, EBI-747776;
CC Q8N187; Q9NSE2: CISH; NbExp=3; IntAct=EBI-745541, EBI-617866;
CC Q8N187; Q9NR30: DDX21; NbExp=3; IntAct=EBI-745541, EBI-357942;
CC Q8N187; Q9BUZ4: TRAF4; NbExp=3; IntAct=EBI-745541, EBI-3650647;
CC Q8N187; Q8NAP3: ZBTB38; NbExp=3; IntAct=EBI-745541, EBI-5235984;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N187-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N187-2; Sequence=VSP_016785, VSP_016786, VSP_016787;
CC Name=3;
CC IsoId=Q8N187-3; Sequence=VSP_055713;
CC -!- DOMAIN: The N-terminus is necessary for DNA-binding. The C-terminus is
CC necessary for transcriptional activation (PubMed:11832226).
CC {ECO:0000269|PubMed:11832226}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15088.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB69018.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; AB053309; BAB69018.1; ALT_FRAME; mRNA.
DR EMBL; AB053310; BAB69019.1; -; mRNA.
DR EMBL; AY032876; AAK66819.2; -; mRNA.
DR EMBL; AF454946; AAL62330.1; -; mRNA.
DR EMBL; AK025232; BAB15088.1; ALT_INIT; mRNA.
DR EMBL; AK304014; BAG64929.1; -; mRNA.
DR EMBL; AC010900; AAY24288.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW70320.1; -; Genomic_DNA.
DR EMBL; BC033777; AAH33777.1; -; mRNA.
DR EMBL; AL834188; CAD38882.2; -; mRNA.
DR CCDS; CCDS42801.1; -. [Q8N187-1]
DR CCDS; CCDS63091.1; -. [Q8N187-3]
DR RefSeq; NP_001098056.1; NM_001104586.2. [Q8N187-1]
DR RefSeq; NP_001269839.1; NM_001282910.1. [Q8N187-3]
DR RefSeq; NP_001269840.1; NM_001282911.1. [Q8N187-3]
DR RefSeq; NP_001309356.1; NM_001322427.1. [Q8N187-1]
DR RefSeq; NP_001309357.1; NM_001322428.1. [Q8N187-1]
DR RefSeq; NP_079020.13; NM_024744.15. [Q8N187-1]
DR RefSeq; XP_005246915.1; XM_005246858.3. [Q8N187-1]
DR RefSeq; XP_005246916.1; XM_005246859.3. [Q8N187-1]
DR RefSeq; XP_011510169.1; XM_011511867.2. [Q8N187-1]
DR RefSeq; XP_016860450.1; XM_017004961.1.
DR AlphaFoldDB; Q8N187; -.
DR BioGRID; 122897; 3.
DR IntAct; Q8N187; 8.
DR STRING; 9606.ENSP00000384006; -.
DR iPTMnet; Q8N187; -.
DR PhosphoSitePlus; Q8N187; -.
DR BioMuta; CARF; -.
DR DMDM; 85540610; -.
DR jPOST; Q8N187; -.
DR MassIVE; Q8N187; -.
DR PaxDb; Q8N187; -.
DR PeptideAtlas; Q8N187; -.
DR PRIDE; Q8N187; -.
DR ProteomicsDB; 32363; -.
DR ProteomicsDB; 71573; -. [Q8N187-1]
DR Antibodypedia; 34159; 199 antibodies from 28 providers.
DR DNASU; 79800; -.
DR Ensembl; ENST00000320443.12; ENSP00000316224.9; ENSG00000138380.18. [Q8N187-3]
DR Ensembl; ENST00000402905.7; ENSP00000384006.2; ENSG00000138380.18. [Q8N187-1]
DR Ensembl; ENST00000428585.5; ENSP00000396221.1; ENSG00000138380.18. [Q8N187-3]
DR Ensembl; ENST00000434998.5; ENSP00000415948.1; ENSG00000138380.18. [Q8N187-2]
DR Ensembl; ENST00000438828.4; ENSP00000414644.1; ENSG00000138380.18. [Q8N187-1]
DR GeneID; 79800; -.
DR KEGG; hsa:79800; -.
DR MANE-Select; ENST00000438828.4; ENSP00000414644.1; NM_024744.17; NP_079020.13.
DR UCSC; uc002uzn.5; human. [Q8N187-1]
DR CTD; 79800; -.
DR DisGeNET; 79800; -.
DR GeneCards; CARF; -.
DR HGNC; HGNC:14435; CARF.
DR HPA; ENSG00000138380; Low tissue specificity.
DR MIM; 607586; gene.
DR neXtProt; NX_Q8N187; -.
DR OpenTargets; ENSG00000138380; -.
DR PharmGKB; PA24748; -.
DR VEuPathDB; HostDB:ENSG00000138380; -.
DR eggNOG; ENOG502QWYS; Eukaryota.
DR GeneTree; ENSGT00390000013916; -.
DR HOGENOM; CLU_078252_0_0_1; -.
DR InParanoid; Q8N187; -.
DR OMA; FQHLTCM; -.
DR OrthoDB; 366551at2759; -.
DR PhylomeDB; Q8N187; -.
DR TreeFam; TF333279; -.
DR PathwayCommons; Q8N187; -.
DR SignaLink; Q8N187; -.
DR BioGRID-ORCS; 79800; 21 hits in 1043 CRISPR screens.
DR ChiTaRS; CARF; human.
DR GeneWiki; ALS2CR8; -.
DR GenomeRNAi; 79800; -.
DR Pharos; Q8N187; Tbio.
DR PRO; PR:Q8N187; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8N187; protein.
DR Bgee; ENSG00000138380; Expressed in calcaneal tendon and 137 other tissues.
DR ExpressionAtlas; Q8N187; baseline and differential.
DR Genevisible; Q8N187; HS.
DR GO; GO:0001652; C:granular component; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0071277; P:cellular response to calcium ion; IDA:UniProtKB.
DR GO; GO:0035865; P:cellular response to potassium ion; IDA:UniProtKB.
DR GO; GO:0061400; P:positive regulation of transcription from RNA polymerase II promoter in response to calcium ion; IDA:UniProtKB.
DR GO; GO:0051090; P:regulation of DNA-binding transcription factor activity; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR InterPro; IPR029309; CaRF.
DR PANTHER; PTHR14694; PTHR14694; 1.
DR Pfam; PF15299; ALS2CR8; 1.
PE 1: Evidence at protein level;
KW Activator; Alternative splicing; DNA-binding; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..725
FT /note="Calcium-responsive transcription factor"
FT /id="PRO_0000076172"
FT REGION 572..592
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..102
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11586298"
FT /id="VSP_016785"
FT VAR_SEQ 27..102
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_055713"
FT VAR_SEQ 279..309
FT /note="SRAVVMECQYGPRRKGFQLKKVSEQESRSCQ -> TFLKNYFKRFSSSHSPL
FT SKCDFPKVITFLFW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11586298"
FT /id="VSP_016786"
FT VAR_SEQ 310..725
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11586298"
FT /id="VSP_016787"
FT CONFLICT 238
FT /note="K -> E (in Ref. 2; AAK66819 and 4; BAB15088)"
FT /evidence="ECO:0000305"
FT CONFLICT 286
FT /note="C -> R (in Ref. 4; BAG64929)"
FT /evidence="ECO:0000305"
FT CONFLICT 300..301
FT /note="VS -> SQ (in Ref. 4; BAB15088)"
FT /evidence="ECO:0000305"
FT CONFLICT 465
FT /note="F -> L (in Ref. 7; AAH33777)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 725 AA; 80698 MW; 871D8874DF8D1384 CRC64;
MEQSNDSLRV NHNDGEESKT SAQVFEHLIC MDSRDSSFGQ NDSPTVLPIT TREANNSLIS
QNIPGPLTQT QTLSAEQFHL VDQNGQAIQY ELQSLGESNA QMMIVASPTE NGQVLRVIPP
TQTGMAQVII PQGQLVDVNS PRDVPEEKPS NRNLPTVRVD TLADNTSNYI LHPQTSFPLP
KKSVTGMLEE PLLGPLQPLS SNTPIWACRL RSCEKIGDSY RGYCVSETEL ESVLTFHKQQ
TQSVWGTRQS PSPAKPATRL MWKSQYVPYD GIPFVNAGSR AVVMECQYGP RRKGFQLKKV
SEQESRSCQL YKATCPARIY IKKVQKFPEY RVPTDPKIDK KIIRMEQEKA FNMLKKNLVD
AGGVLRWYVQ LPTQQAHQYH ELETPCLTLS PSPFPVSSLE EEETAVRDEN CALPSRLHPQ
VAHKIQELVS QGIEQVYAVR KQLRKFVERE LFKPDEVPER HNLSFFPTVN DIKNHIHEVQ
KSLRNGDTVY NSEIIPATLQ WTTDSGNILK ETMTVTFAEG NSPGESITTK VETNQTRGSL
SPEPTHLLSS LSSFQPKIFT QLQGLQLQPR YTSPDESPAV VSVNNQPSSS PSGLLDTIGS
AVMNNNSLLL GQSHSLQRDT CLTQNNSTAS TMGNLPEPDQ NLVAMDELVE VGDVEDTGNL
EGTVHRILLG DVQTIPIQII DNHSALIEEN PESTISVSQV KQEPKEPALS MEAKKTVDYK
KLSAT
