Reviewed, UniProtKB/Swiss-Prot Q8N187 (AL2S8_HUMAN)

Names and origin

Protein names

Recommended name:
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein
Alternative name(s):
    Calcium-response factor
      Short name=CaRF
    Testis development protein NYD-SP24

Gene names

Name:	ALS2CR8
Synonyms:	CARF

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	725 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at transcript level.

General annotation (Comments)

Function	May be a transcription factor By similarity.
Subcellular location	Nucleus Potential.
Sequence caution	The sequence BAB69018.1 differs from that shown. Reason: Frameshift at position 715.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing
Technical term	Complete proteome
Gene Ontology (GO)
None. [Check GOA]

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 725	725	Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein		PRO_0000076172
Natural variations
	Alternative sequence	1 – 102	102	Missing in isoform 2.		VSP_016785
	Alternative sequence	279 – 309	31	SRAVV…SRSCQ → TFLKNYFKRFSSSHSPLSKC DFPKVITFLFW in isoform 2.		VSP_016786
	Alternative sequence	310 – 725	416	Missing in isoform 2.		VSP_016787
Experimental info
	Sequence conflict	238	1	K → E Ref.2
	Sequence conflict	238	1	K → E Ref.7
	Sequence conflict	300 – 301	2	VS → SQ Ref.7
	Sequence conflict	465	1	F → L in AAH33777. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 10, 2006. Version 2. Checksum: 871D8874DF8D1384	FASTA	725	80,698
	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
	Isoform 2. Checksum: B63FE62A853BF86E	FASTA	207	23,212
	10 20 30 40 50 60 MIVASPTENG QVLRVIPPTQ TGMAQVIIPQ GQLVDVNSPR DVPEEKPSNR NLPTVRVDTL 70 80 90 100 110 120 ADNTSNYILH PQTSFPLPKK SVTGMLEEPL LGPLQPLSSN TPIWACRLRS CEKIGDSYRG 130 140 150 160 170 180 YCVSETELES VLTFHKQQTQ SVWGTRQSPS PAKPATRLMW KSQYVPYDGI PFVNAGTFLK 190 200 NYFKRFSSSH SPLSKCDFPK VITFLFW

References

	« Hide 'large scale' referencesShow '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. , Rouleau G.A., Hayden M.R., Ikeda J.-E. Nat. Genet. 29:166-173(2001) [PubMed: 11586298] [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: 11832226] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[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. , 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: 15815621] [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: 15489334] [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: 17974005] [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. , 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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 29-301 (ISOFORM 1). Tissue: Colon.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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.
IPI	IPI00295701. IPI00658105.
RefSeq	NP_001098056.1. NP_079020.13.
UniGene	Hs.444982
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N187. 1 interaction.
STRING	Q8N187.
PTM databases
PhosphoSite	Q8N187.
Proteomic databases
PRIDE	Q8N187.
Genome annotation databases
Ensembl	ENST00000320443; ENSP00000316224; ENSG00000138380; Homo sapiens. [Genome view] ENST00000402905; ENSP00000384006; ENSG00000138380; Homo sapiens. [Genome view] ENST00000438828; ENSP00000414644; ENSG00000138380; Homo sapiens. [Genome view]
GeneID	79800.
KEGG	hsa:79800.
UCSC	uc002uzm.2. human. uc002uzo.2. human.
Organism-specific databases
CTD	79800.
GeneCards	GC02P203485.
H-InvDB	HIX0002756.
HGNC	HGNC:14435. ALS2CR8.
MIM	607586. gene.
PharmGKB	PA24748.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8N187.
InParanoid	Q8N187.
OMA	QLQPRFT.
OrthoDB	EOG94J548.
Gene expression databases
ArrayExpress	Q8N187.
Bgee	Q8N187.
CleanEx	HS_ALS2CR8.
Genevestigator	Q8N187.
GermOnline	ENSG00000138380. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	69356.
SOURCE	Search...

Entry information

Entry name

AL2S8_HUMAN

Accession

Primary (citable) accession number: Q8N187
Secondary accession number(s): Q8ND29 , Q8WXC0, Q96J78, Q96Q38, Q96Q39, Q9H712

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 10, 2006
Last sequence update:	January 10, 2006
Last modified:	December 15, 2009
This is version 57 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.