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Q53TS8

- AL2SA_HUMAN

UniProt

Q53TS8 - AL2SA_HUMAN

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Protein

Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein

Gene

ALS2CR11

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein
Gene namesi
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:14438. ALS2CR11.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24734.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 623623Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 proteinPRO_0000076174Add
BLAST

Proteomic databases

MaxQBiQ53TS8.
PaxDbiQ53TS8.
PRIDEiQ53TS8.

PTM databases

PhosphoSiteiQ53TS8.

Expressioni

Gene expression databases

BgeeiQ53TS8.
CleanExiHS_ALS2CR11.
ExpressionAtlasiQ53TS8. baseline and differential.
GenevestigatoriQ53TS8.

Organism-specific databases

HPAiHPA045406.

Interactioni

Protein-protein interaction databases

BioGridi127358. 5 interactions.
IntActiQ53TS8. 5 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ53TS8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG28642.
GeneTreeiENSGT00390000018209.
HOGENOMiHOG000033889.
HOVERGENiHBG054167.
InParanoidiQ53TS8.
OMAiSMILKSI.
OrthoDBiEOG7GXP9Z.
PhylomeDBiQ53TS8.
TreeFamiTF328407.

Family and domain databases

InterProiIPR000008. C2_dom.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q53TS8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MEPPQETNRP FSTLDNRSGQ VQVLSATPLL QRNPYSSPDI MHIKGSEASS
60 70 80 90 100
VPYALNQGTT ALPKNKNQEG TGHRLLNMLR KTLKESDSEE LEITQETPNL
110 120 130 140 150
VPFGDVVGCL GIHIKNCRHF MPKISLQHYA NLFIRISINK AVKCTKMCSL
160 170 180 190 200
LSKNDEKNTV IKFDEVKYFS VQVPRRYDDK RNNILLELIQ YDNREKRAFL
210 220 230 240 250
LGSVQIHLYE VIQKGCFIEE VQVLHGNIFV CRLEVEFMFS YGNFGYGFSH
260 270 280 290 300
QLKPLQKITE PSMFMNLAPP PERTDPVTKV ITPQTVEYPA FLSPDLNVTV
310 320 330 340 350
GTPAVQSSNQ PSVVRLEKLQ QQPRERLEKM KKEYRNLNTW IDKANYLESI
360 370 380 390 400
LMPKLEHKDS EETNIDEASE NTKSNHPEEE LENIVGVDIP LVNEEAETTA
410 420 430 440 450
NELLDNDSEK GLTIPTLNQS DQDNSTADAS KNDESTPSPT EVHSLCTISN
460 470 480 490 500
QETIKAGRIP PLGERQSESM PDRKMKNVFF PLEVKLKDNY PSILKADSSL
510 520 530 540 550
SEVAFSPKEY NSPSFRPEYI EFKPKFQDCS DKFEDLHDMT SFTHLKKVKS
560 570 580 590 600
RSRLLGKSSD DIHNHARHSA RPYTAPEVNK QRESYSGKFT SRRMVSSGLV
610 620
HINDKTSDYE MHKMRPKKIK RGY
Length:623
Mass (Da):71,159
Last modified:May 24, 2005 - v1
Checksum:iE716E5F34CC3868F
GO
Isoform 2 (identifier: Q53TS8-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:395
Mass (Da):45,227
Checksum:iA9E422C2006325DB
GO
Isoform 3 (identifier: Q53TS8-3) [UniParc]FASTAAdd to Basket

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.

Show »
Length:550
Mass (Da):62,411
Checksum:i7067FA0AC430A943
GO
Isoform 4 (identifier: Q53TS8-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     527-527: Q → QFQKFNKNGF...LHWTARRTIH

Note: No experimental confirmation available.Curated

Show »
Length:1,820
Mass (Da):209,056
Checksum:iD564B528D1600F3D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Isoform 4 (identifier: Q53TS8-4)
Sequence conflicti698 – 6981M → T in BX648732. (PubMed:17974005)Curated
Sequence conflicti1039 – 10391C → G in BX648732. (PubMed:17974005)Curated
Sequence conflicti1559 – 15591M → I in BX648732. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti123 – 1231K → M in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_035787
Natural varianti376 – 3761H → Q.3 Publications
Corresponds to variant rs10804117 [ dbSNP | Ensembl ].
VAR_024769

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei388 – 3958DIPLVNEE → GGFFTKRI in isoform 2. 1 PublicationVSP_016788
Alternative sequencei396 – 623228Missing in isoform 2. 1 PublicationVSP_016789Add
BLAST
Alternative sequencei504 – 55047AFSPK…KKVKS → NLRSICINPKSRNLDSSPTE ISWQNNNLNLAERENTGLVS TRLKIKR in isoform 3. 1 PublicationVSP_045400Add
BLAST
Alternative sequencei527 – 5271Q → 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. 1 PublicationVSP_045401
Alternative sequencei551 – 62373Missing in isoform 3. 1 PublicationVSP_045402Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS2349.1. [Q53TS8-1]
CCDS54428.1. [Q53TS8-2]
CCDS54429.1. [Q53TS8-3]
CCDS54430.1. [Q53TS8-4]
RefSeqiNP_001161688.1. NM_001168216.1. [Q53TS8-2]
NP_001161689.1. NM_001168217.1. [Q53TS8-3]
NP_001161693.1. NM_001168221.1. [Q53TS8-4]
NP_689738.3. NM_152525.5. [Q53TS8-1]
UniGeneiHs.335788.

Genome annotation databases

EnsembliENST00000286195; ENSP00000286195; ENSG00000155754. [Q53TS8-1]
ENST00000439140; ENSP00000409937; ENSG00000155754. [Q53TS8-4]
ENST00000439802; ENSP00000400672; ENSG00000155754. [Q53TS8-2]
ENST00000450242; ENSP00000399016; ENSG00000155754. [Q53TS8-3]
GeneIDi151254.
KEGGihsa:151254.
UCSCiuc002uye.3. human. [Q53TS8-1]
uc010fti.3. human. [Q53TS8-2]

Polymorphism databases

DMDMi74726955.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
CCDSi CCDS2349.1. [Q53TS8-1 ]
CCDS54428.1. [Q53TS8-2 ]
CCDS54429.1. [Q53TS8-3 ]
CCDS54430.1. [Q53TS8-4 ]
RefSeqi NP_001161688.1. NM_001168216.1. [Q53TS8-2 ]
NP_001161689.1. NM_001168217.1. [Q53TS8-3 ]
NP_001161693.1. NM_001168221.1. [Q53TS8-4 ]
NP_689738.3. NM_152525.5. [Q53TS8-1 ]
UniGenei Hs.335788.

3D structure databases

ProteinModelPortali Q53TS8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127358. 5 interactions.
IntActi Q53TS8. 5 interactions.

PTM databases

PhosphoSitei Q53TS8.

Polymorphism databases

DMDMi 74726955.

Proteomic databases

MaxQBi Q53TS8.
PaxDbi Q53TS8.
PRIDEi Q53TS8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000286195 ; ENSP00000286195 ; ENSG00000155754 . [Q53TS8-1 ]
ENST00000439140 ; ENSP00000409937 ; ENSG00000155754 . [Q53TS8-4 ]
ENST00000439802 ; ENSP00000400672 ; ENSG00000155754 . [Q53TS8-2 ]
ENST00000450242 ; ENSP00000399016 ; ENSG00000155754 . [Q53TS8-3 ]
GeneIDi 151254.
KEGGi hsa:151254.
UCSCi uc002uye.3. human. [Q53TS8-1 ]
uc010fti.3. human. [Q53TS8-2 ]

Organism-specific databases

CTDi 151254.
GeneCardsi GC02M202352.
H-InvDB HIX0002740.
HGNCi HGNC:14438. ALS2CR11.
HPAi HPA045406.
neXtProti NX_Q53TS8.
PharmGKBi PA24734.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG28642.
GeneTreei ENSGT00390000018209.
HOGENOMi HOG000033889.
HOVERGENi HBG054167.
InParanoidi Q53TS8.
OMAi SMILKSI.
OrthoDBi EOG7GXP9Z.
PhylomeDBi Q53TS8.
TreeFami TF328407.

Miscellaneous databases

GenomeRNAii 151254.
NextBioi 86649.
PROi Q53TS8.

Gene expression databases

Bgeei Q53TS8.
CleanExi HS_ALS2CR11.
ExpressionAtlasi Q53TS8. baseline and differential.
Genevestigatori Q53TS8.

Family and domain databases

InterProi IPR000008. C2_dom.
[Graphical view ]
SUPFAMi SSF49562. SSF49562. 1 hit.
ProtoNeti Search...

Publicationsi

  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-376.
    Tissue: Testis.
  2. 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.
    , 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-123.

Entry informationi

Entry nameiAL2SA_HUMAN
AccessioniPrimary (citable) accession number: Q53TS8
Secondary accession number(s): C9IZH7
, E9PGG4, Q8NCN6, Q96LN4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: May 24, 2005
Last modified: October 29, 2014
This is version 78 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

External Data

Dasty 3