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Q53TS8 (AL2SA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 57. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein
Gene names
Name:ALS2CR11
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length623 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   Technical termComplete proteome
Reference 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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 623623Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein
PRO_0000076174

Natural variations

Alternative sequence388 – 3958DIPLVNEE → GGFFTKRI in isoform 2.
VSP_016788
Alternative sequence396 – 623228Missing in isoform 2.
VSP_016789
Natural variant1231K → M in a colorectal cancer sample; somatic mutation. Ref.4
VAR_035787
Natural variant3761H → Q. Ref.1 Ref.3
Corresponds to variant rs10804117 [ dbSNP | Ensembl ].
VAR_024769

Sequences

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

Last modified May 24, 2005. Version 1.
Checksum: E716E5F34CC3868F

FASTA62371,159
        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 

« Hide

Isoform 2 [UniParc].

Checksum: A9E422C2006325DB
Show »

FASTA39545,227

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. 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: 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. 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: 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. expand/collapse author list , 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

EMBL
GenBank
DDBJ
AK058080 mRNA. Translation: BAB71654.1.
AC007282 Genomic DNA. Translation: AAY14693.1.
BC030659 mRNA. Translation: AAH30659.1.
IPIIPI00044667.
IPI00301617.
RefSeqNP_001161688.1. NM_001168216.1.
NP_001161693.1. NM_001168221.1.
NP_689738.3. NM_152525.5.
UniGeneHs.335788.

3D structure databases

ProteinModelPortalQ53TS8.
ModBaseSearch...

Protein-protein interaction databases

IntActQ53TS8. 5 interactions.
STRINGQ53TS8.

PTM databases

PhosphoSiteQ53TS8.

Polymorphism databases

DMDM74726955.

Proteomic databases

PRIDEQ53TS8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286195; ENSP00000286195; ENSG00000155754.
GeneID151254.
KEGGhsa:151254.
NMPDRfig|9606.3.peg.19160.
UCSCuc002uye.1. human.
uc010fti.1. human.

Organism-specific databases

CTD151254.
GeneCardsGC02M202352.
H-InvDBHIX0002740.
HGNCHGNC:14438. ALS2CR11.
neXtProtNX_Q53TS8.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG09262.
GeneTreeENSGT00390000018209.
HOVERGENHBG054167.
InParanoidQ53TS8.
OrthoDBEOG4KSPJ9.
PhylomeDBQ53TS8.

Gene expression databases

ArrayExpressQ53TS8.
BgeeQ53TS8.
CleanExHS_ALS2CR11.
GenevestigatorQ53TS8.
GermOnlineENSG00000155754. Homo sapiens.

Family and domain databases

ProtoNetSearch...

Other

NextBio86649.

Entry information

Entry nameAL2SA_HUMAN
AccessionPrimary (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: January 25, 2012
This is version 57 of the entry and version 1 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

Human chromosome 2

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations