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Q8N187 (CARTF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Calcium-responsive transcription factor
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein
Calcium-response factor
Short name=CaRF
Testis development protein NYD-SP24
Gene names
Name:CARF
Synonyms:ALS2CR8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length725 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Acts as a transcriptional activator that mediates the calcium- and neuron-selective induction of BDNF exon III transcription. Binds to the consensus calcium-response element CaRE1 5'-CTATTTCGAG-3' sequence. Ref.3 Ref.8

Subcellular location

Nucleus By similarity.

Domain

The N-terminus is necessary for DNA-binding. The C-terminus is necessary for transcriptional activation (Ref.3).

Sequence caution

The sequence BAB15088.1 differs from that shown. Reason: Erroneous initiation.

The sequence BAB69018.1 differs from that shown. Reason: Frameshift at position 715.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N187-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8N187-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-102: Missing.
     279-309: SRAVVMECQYGPRRKGFQLKKVSEQESRSCQ → TFLKNYFKRFSSSHSPLSKCDFPKVITFLFW
     310-725: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 725725Calcium-responsive transcription factor
PRO_0000076172

Natural variations

Alternative sequence1 – 102102Missing in isoform 2.
VSP_016785
Alternative sequence279 – 30931SRAVV…SRSCQ → TFLKNYFKRFSSSHSPLSKC DFPKVITFLFW in isoform 2.
VSP_016786
Alternative sequence310 – 725416Missing in isoform 2.
VSP_016787

Experimental info

Sequence conflict2381K → E Ref.2
Sequence conflict2381K → E Ref.7
Sequence conflict300 – 3012VS → SQ Ref.7
Sequence conflict4651F → L in AAH33777. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 10, 2006. Version 2.
Checksum: 871D8874DF8D1384

FASTA72580,698
        10         20         30         40         50         60 
MEQSNDSLRV NHNDGEESKT SAQVFEHLIC MDSRDSSFGQ NDSPTVLPIT TREANNSLIS 

        70         80         90        100        110        120 
QNIPGPLTQT QTLSAEQFHL VDQNGQAIQY ELQSLGESNA QMMIVASPTE NGQVLRVIPP 

       130        140        150        160        170        180 
TQTGMAQVII PQGQLVDVNS PRDVPEEKPS NRNLPTVRVD TLADNTSNYI LHPQTSFPLP 

       190        200        210        220        230        240 
KKSVTGMLEE PLLGPLQPLS SNTPIWACRL RSCEKIGDSY RGYCVSETEL ESVLTFHKQQ 

       250        260        270        280        290        300 
TQSVWGTRQS PSPAKPATRL MWKSQYVPYD GIPFVNAGSR AVVMECQYGP RRKGFQLKKV 

       310        320        330        340        350        360 
SEQESRSCQL YKATCPARIY IKKVQKFPEY RVPTDPKIDK KIIRMEQEKA FNMLKKNLVD 

       370        380        390        400        410        420 
AGGVLRWYVQ LPTQQAHQYH ELETPCLTLS PSPFPVSSLE EEETAVRDEN CALPSRLHPQ 

       430        440        450        460        470        480 
VAHKIQELVS QGIEQVYAVR KQLRKFVERE LFKPDEVPER HNLSFFPTVN DIKNHIHEVQ 

       490        500        510        520        530        540 
KSLRNGDTVY NSEIIPATLQ WTTDSGNILK ETMTVTFAEG NSPGESITTK VETNQTRGSL 

       550        560        570        580        590        600 
SPEPTHLLSS LSSFQPKIFT QLQGLQLQPR YTSPDESPAV VSVNNQPSSS PSGLLDTIGS 

       610        620        630        640        650        660 
AVMNNNSLLL GQSHSLQRDT CLTQNNSTAS TMGNLPEPDQ NLVAMDELVE VGDVEDTGNL 

       670        680        690        700        710        720 
EGTVHRILLG DVQTIPIQII DNHSALIEEN PESTISVSQV KQEPKEPALS MEAKKTVDYK 


KLSAT 

« Hide

Isoform 2 [UniParc].

Checksum: B63FE62A853BF86E
Show »

FASTA20723,212

References

« Hide 'large scale' references
[1]"A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2."
Hadano S., Hand C.K., Osuga H., Yanagisawa Y., Otomo A., Devon R.S., Miyamoto N., Showguchi-Miyata J., Okada Y., Singaraja R., Figlewicz D.A., Kwiatkowski T., Hosler B.A., Sagie T., Skaug J., Nasir J., Brown R.H. Jr., Scherer S.W. expand/collapse author list , Rouleau G.A., Hayden M.R., Ikeda J.-E.
Nat. Genet. 29:166-173(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[2]"NYD-SP24: cloning a novel gene related to testis development from human testis."
Sha J.H.
Submitted (AUG-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Testis.
[3]"A calcium-responsive transcription factor, CaRF, that regulates neuronal activity-dependent expression of BDNF."
Tao X., West A.E., Chen W.G., Corfas G., Greenberg M.E.
Neuron 33:383-395(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, DNA-BINDING.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[6]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-278 (ISOFORM 1).
Tissue: Lymph node.
[7]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 29-301 (ISOFORM 1).
Tissue: Colon.
[8]"Regulation of brain-derived neurotrophic factor exon IV transcription through calcium responsive elements in cortical neurons."
Zheng F., Zhou X., Luo Y., Xiao H., Wayman G., Wang H.
PLoS ONE 6:E28441-E28441(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB053309 mRNA. Translation: BAB69018.1. Frameshift.
AB053310 mRNA. Translation: BAB69019.1.
AY032876 mRNA. Translation: AAK66819.2.
AF454946 mRNA. Translation: AAL62330.1.
AC010900 Genomic DNA. Translation: AAY24288.1.
BC033777 mRNA. Translation: AAH33777.1.
AL834188 mRNA. Translation: CAD38882.2.
AK025232 mRNA. Translation: BAB15088.1. Different initiation.
CCDSCCDS42801.1. [Q8N187-1]
RefSeqNP_001098056.1. NM_001104586.2. [Q8N187-1]
NP_001269840.1. NM_001282911.1.
NP_001269841.1. NM_001282912.1.
NP_079020.13. NM_024744.15. [Q8N187-1]
XP_005246915.1. XM_005246858.1. [Q8N187-1]
XP_005246916.1. XM_005246859.1. [Q8N187-1]
XP_006712820.1. XM_006712757.1. [Q8N187-1]
UniGeneHs.444982.

3D structure databases

ProteinModelPortalQ8N187.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122897. 3 interactions.
IntActQ8N187. 2 interactions.
MINTMINT-1472416.
STRING9606.ENSP00000316224.

PTM databases

PhosphoSiteQ8N187.

Polymorphism databases

DMDM85540610.

Proteomic databases

PaxDbQ8N187.
PRIDEQ8N187.

Protocols and materials databases

DNASU79800.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000320443; ENSP00000316224; ENSG00000138380. [Q8N187-1]
ENST00000402905; ENSP00000384006; ENSG00000138380. [Q8N187-1]
ENST00000434998; ENSP00000415948; ENSG00000138380. [Q8N187-2]
ENST00000438828; ENSP00000414644; ENSG00000138380. [Q8N187-1]
GeneID79800.
KEGGhsa:79800.
UCSCuc002uzn.3. human. [Q8N187-2]
uc002uzo.2. human. [Q8N187-1]

Organism-specific databases

CTD79800.
GeneCardsGC02P203777.
HGNCHGNC:14435. CARF.
HPAHPA034557.
MIM607586. gene.
neXtProtNX_Q8N187.
PharmGKBPA24748.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45356.
HOVERGENHBG080829.
InParanoidQ8N187.
OMAQLQPRFT.
OrthoDBEOG761BTC.
PhylomeDBQ8N187.
TreeFamTF333279.

Gene expression databases

ArrayExpressQ8N187.
BgeeQ8N187.
CleanExHS_ALS2CR8.
GenevestigatorQ8N187.

Family and domain databases

InterProIPR029309. CaRF.
[Graphical view]
PfamPF15299. ALS2CR8. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiALS2CR8.
GenomeRNAi79800.
NextBio69356.
PROQ8N187.
SOURCESearch...

Entry information

Entry nameCARTF_HUMAN
AccessionPrimary (citable) accession number: Q8N187
Secondary accession number(s): Q8ND29 expand/collapse secondary AC list , Q8WXC0, Q96J78, Q96Q38, Q96Q39, Q9H712
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: January 10, 2006
Last modified: July 9, 2014
This is version 89 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM