Reviewed, UniProtKB/Swiss-Prot Q53TS8 (AL2SA_HUMAN)

Names and origin

Protein names

Recommended name:
    Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein

Gene names

Name:

ALS2CR11

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

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
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: Q53TS8-1)

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: Q53TS8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     388-395: DIPLVNEE → GGFFTKRI
     396-623: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 623	623	Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein		PRO_0000076174
Natural variations
	Alternative sequence	388 – 395	8	DIPLVNEE → GGFFTKRI in isoform 2.		VSP_016788
	Alternative sequence	396 – 623	228	Missing in isoform 2.		VSP_016789
	Natural variant	123	1	K → M in a colorectal cancer sample; somatic mutation. Ref.4		VAR_035787
	Natural variant	376	1	H → Q: dbSNP rs10804117. Ref.1 Ref.3		VAR_024769

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 24, 2005. Version 1. Checksum: E716E5F34CC3868F	FASTA	623	71,159
	10 20 30 40 50 60 MEPPQETNRP FSTLDNRSGQ VQVLSATPLL QRNPYSSPDI MHIKGSEASS VPYALNQGTT 70 80 90 100 110 120 ALPKNKNQEG TGHRLLNMLR KTLKESDSEE LEITQETPNL VPFGDVVGCL GIHIKNCRHF 130 140 150 160 170 180 MPKISLQHYA NLFIRISINK AVKCTKMCSL LSKNDEKNTV IKFDEVKYFS VQVPRRYDDK 190 200 210 220 230 240 RNNILLELIQ YDNREKRAFL LGSVQIHLYE VIQKGCFIEE VQVLHGNIFV CRLEVEFMFS 250 260 270 280 290 300 YGNFGYGFSH QLKPLQKITE PSMFMNLAPP PERTDPVTKV ITPQTVEYPA FLSPDLNVTV 310 320 330 340 350 360 GTPAVQSSNQ PSVVRLEKLQ QQPRERLEKM KKEYRNLNTW IDKANYLESI LMPKLEHKDS 370 380 390 400 410 420 EETNIDEASE NTKSNHPEEE LENIVGVDIP LVNEEAETTA NELLDNDSEK GLTIPTLNQS 430 440 450 460 470 480 DQDNSTADAS KNDESTPSPT EVHSLCTISN QETIKAGRIP PLGERQSESM PDRKMKNVFF 490 500 510 520 530 540 PLEVKLKDNY PSILKADSSL SEVAFSPKEY NSPSFRPEYI EFKPKFQDCS DKFEDLHDMT 550 560 570 580 590 600 SFTHLKKVKS RSRLLGKSSD DIHNHARHSA RPYTAPEVNK QRESYSGKFT SRRMVSSGLV 610 620 HINDKTSDYE MHKMRPKKIK RGY
	Isoform 2. Checksum: A9E422C2006325DB	FASTA	395	45,227
	10 20 30 40 50 60 MEPPQETNRP FSTLDNRSGQ VQVLSATPLL QRNPYSSPDI MHIKGSEASS VPYALNQGTT 70 80 90 100 110 120 ALPKNKNQEG TGHRLLNMLR KTLKESDSEE LEITQETPNL VPFGDVVGCL GIHIKNCRHF 130 140 150 160 170 180 MPKISLQHYA NLFIRISINK AVKCTKMCSL LSKNDEKNTV IKFDEVKYFS VQVPRRYDDK 190 200 210 220 230 240 RNNILLELIQ YDNREKRAFL LGSVQIHLYE VIQKGCFIEE VQVLHGNIFV CRLEVEFMFS 250 260 270 280 290 300 YGNFGYGFSH QLKPLQKITE PSMFMNLAPP PERTDPVTKV ITPQTVEYPA FLSPDLNVTV 310 320 330 340 350 360 GTPAVQSSNQ PSVVRLEKLQ QQPRERLEKM KKEYRNLNTW IDKANYLESI LMPKLEHKDS 370 380 390 EETNIDEASE NTKSNHPEEE LENIVGVGGF FTKRI

References

[1]	"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] (ISOFORM 2), VARIANT GLN-376. Tissue: Testis.
[2]	"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].
[3]	"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), VARIANT GLN-376. Tissue: Testis.
[4]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-123.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AK058080 mRNA. Translation: BAB71654.1. AC007282 Genomic DNA. Translation: AAY14693.1. BC030659 mRNA. Translation: AAH30659.1.
IPI	IPI00044667. IPI00301617.
RefSeq	NP_689738.3.
UniGene	Hs.335788
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q53TS8. 5 interactions.
PTM databases
PhosphoSite	Q53TS8.
Proteomic databases
PRIDE	Q53TS8.
Genome annotation databases
Ensembl	ENST00000286195; ENSP00000286195; ENSG00000155754; Homo sapiens. [Genome view]
GeneID	151254.
KEGG	hsa:151254.
NMPDR	fig|9606.3.peg.19160.
UCSC	uc002uye.1. human. uc010fti.1. human.
Organism-specific databases
CTD	151254.
GeneCards	GC02M202060.
HGNC	HGNC:14438. ALS2CR11.
PharmGKB	PA24734.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q53TS8.
HOVERGEN	Q53TS8.
OrthoDB	EOG951HB9
Gene expression databases
ArrayExpress	Q53TS8.
Bgee	Q53TS8.
CleanEx	HS_ALS2CR11.
Genevestigator	Q53TS8.
GermOnline	ENSG00000155754. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	86649.

Entry information

Entry name

AL2SA_HUMAN

Accession

Primary (citable) accession number: Q53TS8
Secondary accession number(s): Q8NCN6, Q96LN4

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 10, 2006
Last sequence update:	May 24, 2005
Last modified:	November 24, 2009
This is version 40 of the entry and version 1 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.