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Q53TS8

- AL2SA_HUMAN

UniProt

Q53TS8 - AL2SA_HUMAN

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
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 1 (24 May 2005)
      Previous versions | rss
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    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

    ArrayExpressiQ53TS8.
    BgeeiQ53TS8.
    CleanExiHS_ALS2CR11.
    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.
    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

    MEPPQETNRP FSTLDNRSGQ VQVLSATPLL QRNPYSSPDI MHIKGSEASS    50
    VPYALNQGTT ALPKNKNQEG TGHRLLNMLR KTLKESDSEE LEITQETPNL 100
    VPFGDVVGCL GIHIKNCRHF MPKISLQHYA NLFIRISINK AVKCTKMCSL 150
    LSKNDEKNTV IKFDEVKYFS VQVPRRYDDK RNNILLELIQ YDNREKRAFL 200
    LGSVQIHLYE VIQKGCFIEE VQVLHGNIFV CRLEVEFMFS YGNFGYGFSH 250
    QLKPLQKITE PSMFMNLAPP PERTDPVTKV ITPQTVEYPA FLSPDLNVTV 300
    GTPAVQSSNQ PSVVRLEKLQ QQPRERLEKM KKEYRNLNTW IDKANYLESI 350
    LMPKLEHKDS EETNIDEASE NTKSNHPEEE LENIVGVDIP LVNEEAETTA 400
    NELLDNDSEK GLTIPTLNQS DQDNSTADAS KNDESTPSPT EVHSLCTISN 450
    QETIKAGRIP PLGERQSESM PDRKMKNVFF PLEVKLKDNY PSILKADSSL 500
    SEVAFSPKEY NSPSFRPEYI EFKPKFQDCS DKFEDLHDMT SFTHLKKVKS 550
    RSRLLGKSSD DIHNHARHSA RPYTAPEVNK QRESYSGKFT SRRMVSSGLV 600
    HINDKTSDYE MHKMRPKKIK RGY 623
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    ArrayExpressi Q53TS8.
    Bgeei Q53TS8.
    CleanExi HS_ALS2CR11.
    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 1, 2014
    This is version 77 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