Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q53TS8 (AL2SA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 74. 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) [Reference proteome]
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 4 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.
Isoform 3 (identifier: Q53TS8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     504-550: AFSPKEYNSP...SFTHLKKVKS → NLRSICINPK...LVSTRLKIKR
     551-623: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q53TS8-4)

The sequence of this isoform differs from the canonical sequence as follows:
     527-527: Q → QFQKFNKNGF...LHWTARRTIH
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
Alternative sequence504 – 55047AFSPK…KKVKS → NLRSICINPKSRNLDSSPTE ISWQNNNLNLAERENTGLVS TRLKIKR in isoform 3.
VSP_045400
Alternative sequence5271Q → QFQKFNKNGFDPFLRNINKM SVRKRKDQDIYKYRNILGAE VIEHEDQDPPYPAQSKTAGP ANTTWAHDPNIFTTKMLETE NKLAPDPTINTIKGLDTKNS LKENLPNVSLPSIKGESSRA GNVQANTCHLSKSLNFTPHI EYLKQSMILKSILSENLQDL SDKLFSKPEVSMNSEAREKS SSPLLSIHDKSSSSMEDNVL EKKQDLNNWLSEKDILNSKT TLSQIIKNIPADSFSEGSQI IENIPADSLLEGGQVIKNIP EYSLSEGGQIIKNIPADSFL ESGPGQSPEVEEHVSKKHFE ADERDFPIKKNSSTKKKHLI SEVPNSKSGSSGTVHDYIMR QIFTAPIFSELEIEVKEPSE TPMNLENQLPTPWKRSLSSH ILFHEENADEIELPQPRSAT SQIIQAFPIDTLLESGIIKV IELDKEHHKSSLLGTGITSP KGNLKDSQEYYSEIRSETEP LSEQSIPIIPKDTTSVSRAE FIQEDQNMFPQDSSYYSIAN KELYLPRNGQRLCKDKNDLS STLESLTNSLMDKLSESDEI MLKSFLKNIFNVFFKYNHSE RRGQPEKELERLIQPSFTSD TEHLEELQEDFDKADKLDRK PILSPKLRVFLEELSESEVK HLKSELSKQIQHYLVERLSE SGHITKEDLPKIYQNLYLMN EKAEQKGPNSFQGKYSETVK EIMSFVNNFNHHFIDKHLEI KLRSFLKEILQNYFLKNISE SSLFNETASETIYPNISSLR TKSVSISFHELEQDISKGSF GRRFEINMKYPLSKSLQNYL IALSENELLHLKADLSKHLQ SLFIEKLSKSGLMTKKQLEG INQHINLLNSSSIPLKYIKT HLPFRDDCHFVEKHSEKQNK YSRIVQQTTLQTVSEDKLRE AELIREKEKKYFPLQNLKGN SSLIKEQKSYYTKEEAKTPS LIKVQPSSNENIQASPLSKS SEILTDILLKKLRKEHVFTQ LPQAENSVHKTEIQDPYSWG GKSKITQSKAWCEKTLKMKS LDRKEHVNIYKWTVQEKPEA VLTSYPRIPNARMPREDEYL NRITFPSWQSSTLTHFNTET GEKSKLEDQYCQTLKGNNNN NKKHLVTFAQYKKEIQTLYI KPDEICSEKCAKFPEIQSFQ YKVVEDEKNLKPHLFPELFK IEDLKPKVRKERDRVAQPKK SFNKIVRILPTTLPTTRIHL KKSVPRTLLHWTARRTIH in isoform 4.
VSP_045401
Alternative sequence551 – 62373Missing in isoform 3.
VSP_045402
Natural variant1231K → M in a colorectal cancer sample; somatic mutation. Ref.5
VAR_035787
Natural variant3761H → Q. Ref.1 Ref.2 Ref.4
Corresponds to variant rs10804117 [ dbSNP | Ensembl ].
VAR_024769

Experimental info

Isoform 4:
Sequence conflict6981M → T in BX648732. Ref.2
Sequence conflict10391C → G in BX648732. Ref.2
Sequence conflict15591M → I in BX648732. Ref.2

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
Isoform 3 [UniParc].

Checksum: 7067FA0AC430A943
Show »

FASTA55062,411
Isoform 4 [UniParc].

Checksum: D564B528D1600F3D
Show »

FASTA1,820209,056

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-376.
Tissue: Testis.
[2]"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] (ISOFORMS 3 AND 4), VARIANT GLN-376.
Tissue: Heart and Testis.
[3]"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].
[4]"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), VARIANT GLN-376.
Tissue: Testis.
[5]"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] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-123.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK058080 mRNA. Translation: BAB71654.1.
AL833429 mRNA. No translation available.
BX648732 mRNA. No translation available.
AC007282 Genomic DNA. Translation: AAY14693.1.
BC030659 mRNA. Translation: AAH30659.1.
RefSeqNP_001161688.1. NM_001168216.1.
NP_001161689.1. NM_001168217.1.
NP_001161693.1. NM_001168221.1.
NP_689738.3. NM_152525.5.
UniGeneHs.335788.

3D structure databases

ProteinModelPortalQ53TS8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127358. 5 interactions.
IntActQ53TS8. 5 interactions.

PTM databases

PhosphoSiteQ53TS8.

Polymorphism databases

DMDM74726955.

Proteomic databases

PaxDbQ53TS8.
PRIDEQ53TS8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000286195; ENSP00000286195; ENSG00000155754. [Q53TS8-1]
ENST00000439140; ENSP00000409937; ENSG00000155754. [Q53TS8-4]
ENST00000439802; ENSP00000400672; ENSG00000155754. [Q53TS8-2]
ENST00000450242; ENSP00000399016; ENSG00000155754. [Q53TS8-3]
GeneID151254.
KEGGhsa:151254.
UCSCuc002uye.3. human. [Q53TS8-1]
uc010fti.3. human. [Q53TS8-2]

Organism-specific databases

CTD151254.
GeneCardsGC02M202352.
H-InvDBHIX0002740.
HGNCHGNC:14438. ALS2CR11.
HPAHPA045406.
neXtProtNX_Q53TS8.
PharmGKBPA24734.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG28642.
HOGENOMHOG000033889.
HOVERGENHBG054167.
InParanoidQ53TS8.
OMASPEVEEH.
OrthoDBEOG7GXP9Z.
PhylomeDBQ53TS8.
TreeFamTF328407.

Gene expression databases

ArrayExpressQ53TS8.
BgeeQ53TS8.
CleanExHS_ALS2CR11.
GenevestigatorQ53TS8.

Family and domain databases

InterProIPR000008. C2_dom.
[Graphical view]
SUPFAMSSF49562. SSF49562. 1 hit.
ProtoNetSearch...

Other

GenomeRNAi151254.
NextBio86649.
PROQ53TS8.

Entry information

Entry nameAL2SA_HUMAN
AccessionPrimary (citable) accession number: Q53TS8
Secondary accession number(s): C9IZH7 expand/collapse secondary AC list , E9PGG4, Q8NCN6, Q96LN4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: May 24, 2005
Last modified: April 16, 2014
This is version 74 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

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