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Q8TCU4

- ALMS1_HUMAN

UniProt

Q8TCU4 - ALMS1_HUMAN

Protein

Alstrom syndrome protein 1

Gene

ALMS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 107 (01 Oct 2014)
      Sequence version 3 (18 May 2010)
      Previous versions | rss
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    Functioni

    Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.1 Publication

    GO - Molecular functioni

    1. protein binding Source: IntAct

    GO - Biological processi

    1. endosomal transport Source: MGI
    2. G2/M transition of mitotic cell cycle Source: Reactome
    3. mitotic cell cycle Source: Reactome
    4. regulation of stress fiber assembly Source: MGI

    Enzyme and pathway databases

    ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alstrom syndrome protein 1
    Gene namesi
    Name:ALMS1
    Synonyms:KIAA0328
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:428. ALMS1.

    Subcellular locationi

    Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletonspindle pole
    Note: Associated with centrosomes and basal bodies at the base of primary cilia. Specifically locates to the proximal ends of centrioles and basal bodies. Colocalizes partially with NCAPD2 at these sites. During mitosis localizes to both spindle poles.

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. cilium Source: UniProtKB-KW
    3. cytoplasm Source: HPA
    4. cytosol Source: Reactome
    5. spindle pole Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Involvement in diseasei

    Alstrom syndrome (ALMS) [MIM:203800]: A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Ciliopathy, Cone-rod dystrophy, Deafness, Diabetes mellitus, Obesity

    Organism-specific databases

    MIMi203800. phenotype.
    Orphaneti64. Alstrom syndrome.
    PharmGKBiPA24721.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 41674167Alstrom syndrome protein 1PRO_0000225592Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2631 – 26311Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ8TCU4.
    PaxDbiQ8TCU4.
    PRIDEiQ8TCU4.

    PTM databases

    PhosphoSiteiQ8TCU4.

    Expressioni

    Tissue specificityi

    Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level).2 Publications

    Developmental stagei

    Widely expressed in fetal tissues. Detected in fetal pancreas, skeletal muscle, liver, kidney and brain (at protein level). Expressed in fetal aorta and brain.2 Publications

    Gene expression databases

    ArrayExpressiQ8TCU4.
    BgeeiQ8TCU4.
    CleanExiHS_ALMS1.
    GenevestigatoriQ8TCU4.

    Organism-specific databases

    HPAiHPA043200.

    Interactioni

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DYSFO759233EBI-308651,EBI-2799016

    Protein-protein interaction databases

    BioGridi113598. 8 interactions.
    IntActiQ8TCU4. 6 interactions.
    STRINGi9606.ENSP00000264448.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TCU4.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati538 – 584471Add
    BLAST
    Repeati585 – 631472Add
    BLAST
    Repeati632 – 678473Add
    BLAST
    Repeati679 – 725474Add
    BLAST
    Repeati726 – 773485Add
    BLAST
    Repeati774 – 820476Add
    BLAST
    Repeati821 – 870507Add
    BLAST
    Repeati871 – 917478Add
    BLAST
    Repeati918 – 964479Add
    BLAST
    Repeati965 – 10124810Add
    BLAST
    Repeati1013 – 10594711Add
    BLAST
    Repeati1060 – 11064712Add
    BLAST
    Repeati1107 – 11544813Add
    BLAST
    Repeati1155 – 12014714Add
    BLAST
    Repeati1202 – 12484715Add
    BLAST
    Repeati1249 – 12964816Add
    BLAST
    Repeati1297 – 13434717Add
    BLAST
    Repeati1344 – 13914818Add
    BLAST
    Repeati1392 – 14384719Add
    BLAST
    Repeati1439 – 14854720Add
    BLAST
    Repeati1486 – 15334821Add
    BLAST
    Repeati1534 – 15804722Add
    BLAST
    Repeati1581 – 16274723Add
    BLAST
    Repeati1628 – 16744724Add
    BLAST
    Repeati1675 – 17214725Add
    BLAST
    Repeati1722 – 17684726Add
    BLAST
    Repeati1769 – 18154727Add
    BLAST
    Repeati1816 – 18604528Add
    BLAST
    Repeati1861 – 19054529Add
    BLAST
    Repeati1906 – 19504530Add
    BLAST
    Repeati1951 – 19984831Add
    BLAST
    Repeati2059 – 21044632Add
    BLAST
    Repeati2105 – 21514733Add
    BLAST
    Repeati2152 – 21994834Add
    BLAST

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni538 – 2199166234 X 47 AA approximate tandem repeatAdd
    BLAST
    Regioni4035 – 4167133ALMS motifAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi2 – 7574Glu-richAdd
    BLAST

    Keywords - Domaini

    Repeat

    Phylogenomic databases

    eggNOGiNOG45093.
    HOGENOMiHOG000089988.
    HOVERGENiHBG080834.
    InParanoidiQ8TCU4.
    KOiK16741.
    OMAiPSIFYQQ.
    PhylomeDBiQ8TCU4.
    TreeFamiTF335596.

    Family and domain databases

    InterProiIPR028781. ALMS1.
    IPR029299. ALMS_motif.
    [Graphical view]
    PANTHERiPTHR21553:SF23. PTHR21553:SF23. 1 hit.
    PfamiPF15309. ALMS_motif. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TCU4-1) [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

    MEPEDLPWPG ELEEEEEEEE EEEEEEEEAA AAAAANVDDV VVVEEVEEEA     50
    GRELDSDSHY GPQHLESIDD EEDEEAKAWL QAHPGRILPP LSPPQHRYSE 100
    GERTSLEKIV PLTCHVWQQI VYQGNSRTQI SDTNVVCLET TAQRGSGDDQ 150
    KTESWHCLPQ EMDSSQTLDT SQTRFNVRTE DTEVTDFPSL EEGILTQSEN 200
    QVKEPNRDLF CSPLLVIQDS FASPDLPLLT CLTQDQEFAP DSLFHQSELS 250
    FAPLRGIPDK SEDTEWSSRP SEVSEALFQA TAEVASDLAS SRFSVSQHPL 300
    IGSTAVGSQC PFLPSEQGNN EETISSVDEL KIPKDCDRYD DLCSYMSWKT 350
    RKDTQWPENN LADKDQVSVA TSFDITDENI ATKRSDHFDA ARSYGQYWTQ 400
    EDSSKQAETY LTKGLQGKVE SDVITLDGLN ENAVVCSERV AELQRKPTRE 450
    SEYHSSDLRM LRMSPDTVPK APKHLKAGDT SKGGIAKVTQ SNLKSGITTT 500
    PVDSDIGSHL SLSLEDLSQL AVSSLETTTG QHTDTLNQKT LADTHLTEET 550
    LKVTAIPEPA DQKTATPTVL SSSHSHRGKP SIFYQQGLPD SHLTEEALKV 600
    SAAPGLADQT TGMSTLTSTS YSHREKPGTF YQQELPESNL TEEPLEVSAA 650
    PGPVEQKTGI PTVSSTSHSH VEDLLFFYRQ TLPDGHLTDQ ALKVSAVSGP 700
    ADQKTGTATV LSTPHSHREK PGIFYQQEFA DSHQTEETLT KVSATPGPAD 750
    QKTEIPAVQS SSYSQREKPS ILYPQDLADS HLPEEGLKVS AVAGPADQKT 800
    GLPTVPSSAY SHREKLLVFY QQALLDSHLP EEALKVSAVS GPADGKTGTP 850
    AVTSTSSASS SLGEKPSAFY QQTLPNSHLT EEALKVSIVP GPGDQKTGIP 900
    SAPSSFYSHR EKPIIFSQQT LPDFLFPEEA LKVSAVSVLA AQKTGTPTVS 950
    SNSHSHSEKS SVFYQQELPD SDLPRESLKM SAIPGLTDQK TVPTPTVPSG 1000
    SFSHREKPSI FYQQEWPDSY ATEKALKVST GPGPADQKTE IPAVQSSSYP 1050
    QREKPSVLYP QVLSDSHLPE ESLKVSAFPG PADQMTDTPA VPSTFYSQRE 1100
    KPGIFYQQTL PESHLPKEAL KISVAPGLAD QKTGTPTVTS TSYSQHREKP 1150
    SIFHQQALPG THIPEEAQKV SAVTGPGNQK TWIPRVLSTF YSQREKPGIF 1200
    YQQTLPGSHI PEEAQKVSPV LGPADQKTGT PTPTSASYSH TEKPGIFYQQ 1250
    VLPDNHPTEE ALKISVASEP VDQTTGTPAV TSTSYSQYRE KPSIFYQQSL 1300
    PSSHLTEEAK NVSAVPGPAD QKTVIPILPS TFYSHTEKPG VFYQQVLPHS 1350
    HPTEEALKIS VASEPVDQTT GTPTVTSTSY SQHTEKPSIF YQQSLPGSHL 1400
    TEEAKNVSAV PGPGDRKTGI PTLPSTFYSH TEKPGSFYQQ VLPHSHLPEE 1450
    ALEVSVAPGP VDQTIGTPTV TSPSSSFGEK PIVIYKQAFP EGHLPEESLK 1500
    VSVAPGPVGQ TTGAPTITSP SYSQHRAKSG SFYQLALLGS QIPEEALRVS 1550
    SAPGPADQTT GIPTITSTSY SFGEKPIVNY KQAFPDGHLP EEALKVSIVS 1600
    GPTEKKTDIP AGPLGSSALG EKPITFYRQA LLDSPLNKEV VKVSAAPGPA 1650
    DQKTETLPVH STSYSNRGKP VIFYQQTLSD SHLPEEALKV PPVPGPDAQK 1700
    TETPSVSSSL YSYREKPIVF YQQALPDSEL TQEALKVSAV PQPADQKTGL 1750
    STVTSSFYSH TEKPNISYQQ ELPDSHLTEE ALKVSNVPGP ADQKTGVSTV 1800
    TSTSYSHREK PIVSYQRELP HFTEAGLKIL RVPGPADQKT GINILPSNSY 1850
    PQREHSVISY EQELPDLTEV TLKAIGVPGP ADQKTGIQIA SSSSYSNREK 1900
    ASIFHQQELP DVTEEALNVF VVPGQGDRKT EIPTVPLSYY SRREKPSVIS 1950
    QQELPDSHLT EEALKVSPVS IPAEQKTGIP IGLSSSYSHS HKEKLKISTV 2000
    HIPDDQKTEF PAATLSSYSQ IEKPKISTVI GPNDQKTPSQ TAFHSSYSQT 2050
    VKPNILFQQQ LPDRDQSKGI LKISAVPELT DVNTGKPVSL SSSYFHREKS 2100
    NIFSPQELPG SHVTEDVLKV STIPGPAGQK TVLPTALPSS FSHREKPDIF 2150
    YQKDLPDRHL TEDALKISSA LGQADQITGL QTVPSGTYSH GENHKLVSEH 2200
    VQRLIDNLNS SDSSVSSNNV LLNSQADDRV VINKPESAGF RDVGSEEIQD 2250
    AENSAKTLKE IRTLLMEAEN MALKRCNFPA PLARFRDISD ISFIQSKKVV 2300
    CFKEPSSTGV SNGDLLHRQP FTEESPSSRC IQKDIGTQTN LKCRRGIENW 2350
    EFISSTTVRS PLQEAESKVS MALEETLRQY QAAKSVMRSE PEGCSGTIGN 2400
    KIIIPMMTVI KSDSSSDASD GNGSCSWDSN LPESLESVSD VLLNFFPYVS 2450
    PKTSITDSRE EEGVSESEDG GGSSVDSLAA HVKNLLQCES SLNHAKEILR 2500
    NAEEEESRVR AHAWNMKFNL AHDCGYSISE LNEDDRRKVE EIKAELFGHG 2550
    RTTDLSKGLQ SPRGMGCKPE AVCSHIIIES HEKGCFRTLT SEHPQLDRHP 2600
    CAFRSAGPSE MTRGRQNPSS CRAKHVNLSA SLDQNNSHFK VWNSLQLKSH 2650
    SPFQNFIPDE FKISKGLRMP FDEKMDPWLS ELVEPAFVPP KEVDFHSSSQ 2700
    MPSPEPMKKF TTSITFSSHR HSKCISNSSV VKVGVTEGSQ CTGASVGVFN 2750
    SHFTEEQNPP RDLKQKTSSP SSFKMHSNSQ DKEVTILAEG RRQSQKLPVD 2800
    FERSFQEEKP LERSDFTGSH SEPSTRANCS NFKEIQISDN HTLISMGRPS 2850
    STLGVNRSSS RLGVKEKNVT ITPDLPSCIF LEQRELFEQS KAPRADDHVR 2900
    KHHSPSPQHQ DYVAPDLPSC IFLEQRELFE QCKAPYVDHQ MRENHSPLPQ 2950
    GQDSIASDLP SPISLEQCQS KAPGVDDQMN KHHFPLPQGQ DCVVEKNNQH 3000
    KPKSHISNIN VEAKFNTVVS QSAPNHCTLA ASASTPPSNR KALSCVHITL 3050
    CPKTSSKLDS GTLDERFHSL DAASKARMNS EFNFDLHTVS SRSLEPTSKL 3100
    LTSKPVAQDQ ESLGFLGPKS SLDFQVVQPS LPDSNTITQD LKTIPSQNSQ 3150
    IVTSRQIQVN ISDFEGHSNP EGTPVFADRL PEKMKTPLSA FSEKLSSDAV 3200
    TQITTESPEK TLFSSEIFIN AEDRGHEIIE PGNQKLRKAP VKFASSSSVQ 3250
    QVTFSRGTDG QPLLLPYKPS GSTKMYYVPQ LRQIPPSPDS KSDTTVESSH 3300
    SGSNDAIAPD FPAQVLGTRD DDLSATVNIK HKEGIYSKRV VTKASLPVGE 3350
    KPLQNENADA SVQVLITGDE NLSDKKQQEI HSTRAVTEAA QAKEKESLQK 3400
    DTADSSAAAA AEHSAQVGDP EMKNLPDTKA ITQKEEIHRK KTVPEEAWPN 3450
    NKESLQINIE ESECHSEFEN TTRSVFRSAK FYIHHPVHLP SDQDICHESL 3500
    GKSVFMRHSW KDFFQHHPDK HREHMCLPLP YQNMDKTKTD YTRIKSLSIN 3550
    VNLGNKEVMD TTKSQVRDYP KHNGQISDPQ RDQKVTPEQT TQHTVSLNEL 3600
    WNKYRERQRQ QRQPELGDRK ELSLVDRLDR LAKILQNPIT HSLQVSESTH 3650
    DDSRGERSVK EWSGRQQQRN KLQKKKRFKS LEKSHKNTGE LKKSKVLSHH 3700
    RAGRSNQIKI EQIKFDKYIL SKQPGFNYIS NTSSDCRPSE ESELLTDTTT 3750
    NILSGTTSTV ESDILTQTDR EVALHERSSS VSTIDTARLI QAFGHERVCL 3800
    SPRRIKLYSS ITNQQRRYLE KRSKHSKKVL NTGHPLVTSE HTRRRHIQVA 3850
    NHVISSDSIS SSASSFLSSN STFCNKQNVH MLNKGIQAGN LEIVNGAKKH 3900
    TRDVGITFPT PSSSEAKLEE NSDVTSWSEE KREEKMLFTG YPEDRKLKKN 3950
    KKNSHEGVSW FVPVENVESR SKKENVPNTC GPGISWFEPI TKTRPWREPL 4000
    REQNCQGQHL DGRGYLAGPG REAGRDLLRP FVRATLQESL QFHRPDFISR 4050
    SGERIKRLKL IVQERKLQSM LQTERDALFN IDRERQGHQN RMCPLPKRVF 4100
    LAIQKNKPIS KKEMIQRSKR IYEQLPEVQK KREEEKRKSE YKSYRLRAQL 4150
    YKKRVTNQLL GRKVPWD 4167
    Length:4,167
    Mass (Da):460,965
    Last modified:May 18, 2010 - v3
    Checksum:i62184D40C6CF5019
    GO
    Isoform 2 (identifier: Q8TCU4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         4121-4167: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:4,120
    Mass (Da):455,073
    Checksum:iCCA51709F850E380
    GO
    Isoform 3 (identifier: Q8TCU4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         3850-3858: ANHVISSDS → HGYRFHLAM
         3859-4167: Missing.

    Show »
    Length:3,858
    Mass (Da):425,137
    Checksum:i00DA5BFFE7914F8B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti13 – 131E → EE in CAD10391. (PubMed:11941370)Curated
    Sequence conflicti524 – 5241S → SP in CAD10391. (PubMed:11941370)Curated
    Sequence conflicti3416 – 34161Q → L in AAH35025. (PubMed:15489334)Curated
    Sequence conflicti3416 – 34161Q → L in AAH50330. (PubMed:15489334)Curated
    Sequence conflicti4029 – 40291R → K in CAD10391. (PubMed:11941370)Curated
    Sequence conflicti4029 – 40291R → K in BAA20786. (PubMed:9205841)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti671 – 6711V → G.1 Publication
    Corresponds to variant rs2037814 [ dbSNP | Ensembl ].
    VAR_025433
    Natural varianti1412 – 14121G → A.
    Corresponds to variant rs6546837 [ dbSNP | Ensembl ].
    VAR_056734
    Natural varianti1875 – 18751I → V.
    Corresponds to variant rs6546838 [ dbSNP | Ensembl ].
    VAR_059575
    Natural varianti2111 – 21111S → R.1 Publication
    Corresponds to variant rs6724782 [ dbSNP | Ensembl ].
    VAR_025434
    Natural varianti2284 – 22841R → P.
    Corresponds to variant rs6546839 [ dbSNP | Ensembl ].
    VAR_059576
    Natural varianti2574 – 25741S → N.1 Publication
    Corresponds to variant rs3820700 [ dbSNP | Ensembl ].
    VAR_025435
    Natural varianti2672 – 26721D → H.1 Publication
    Corresponds to variant rs2017116 [ dbSNP | Ensembl ].
    VAR_025436
    Natural varianti2856 – 28561N → S.
    Corresponds to variant rs10193972 [ dbSNP | Ensembl ].
    VAR_059577
    Natural varianti3434 – 34341K → E.
    Corresponds to variant rs34071195 [ dbSNP | Ensembl ].
    VAR_059578

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei3850 – 38589ANHVISSDS → HGYRFHLAM in isoform 3. 1 PublicationVSP_017347
    Alternative sequencei3859 – 4167309Missing in isoform 3. 1 PublicationVSP_017348Add
    BLAST
    Alternative sequencei4121 – 416747Missing in isoform 2. 1 PublicationVSP_017349Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ417593 mRNA. Translation: CAD10391.2.
    AC074008 Genomic DNA. Translation: AAY24208.1.
    AC092653 Genomic DNA. No translation available.
    AC096546 Genomic DNA. Translation: AAX82023.1.
    AB002326 mRNA. Translation: BAA20786.3.
    BC035025 mRNA. Translation: AAH35025.1.
    BC050330 mRNA. Translation: AAH50330.1.
    RefSeqiNP_055935.4. NM_015120.4.
    UniGeneiHs.184720.

    Genome annotation databases

    EnsembliENST00000264448; ENSP00000264448; ENSG00000116127. [Q8TCU4-1]
    GeneIDi7840.
    KEGGihsa:7840.
    UCSCiuc002sje.1. human. [Q8TCU4-1]
    uc002sjg.3. human. [Q8TCU4-3]

    Polymorphism databases

    DMDMi296439448.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ417593 mRNA. Translation: CAD10391.2 .
    AC074008 Genomic DNA. Translation: AAY24208.1 .
    AC092653 Genomic DNA. No translation available.
    AC096546 Genomic DNA. Translation: AAX82023.1 .
    AB002326 mRNA. Translation: BAA20786.3 .
    BC035025 mRNA. Translation: AAH35025.1 .
    BC050330 mRNA. Translation: AAH50330.1 .
    RefSeqi NP_055935.4. NM_015120.4.
    UniGenei Hs.184720.

    3D structure databases

    ProteinModelPortali Q8TCU4.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113598. 8 interactions.
    IntActi Q8TCU4. 6 interactions.
    STRINGi 9606.ENSP00000264448.

    PTM databases

    PhosphoSitei Q8TCU4.

    Polymorphism databases

    DMDMi 296439448.

    Proteomic databases

    MaxQBi Q8TCU4.
    PaxDbi Q8TCU4.
    PRIDEi Q8TCU4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000264448 ; ENSP00000264448 ; ENSG00000116127 . [Q8TCU4-1 ]
    GeneIDi 7840.
    KEGGi hsa:7840.
    UCSCi uc002sje.1. human. [Q8TCU4-1 ]
    uc002sjg.3. human. [Q8TCU4-3 ]

    Organism-specific databases

    CTDi 7840.
    GeneCardsi GC02P073612.
    GeneReviewsi ALMS1.
    H-InvDB HIX0002163.
    HGNCi HGNC:428. ALMS1.
    HPAi HPA043200.
    MIMi 203800. phenotype.
    606844. gene.
    neXtProti NX_Q8TCU4.
    Orphaneti 64. Alstrom syndrome.
    PharmGKBi PA24721.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG45093.
    HOGENOMi HOG000089988.
    HOVERGENi HBG080834.
    InParanoidi Q8TCU4.
    KOi K16741.
    OMAi PSIFYQQ.
    PhylomeDBi Q8TCU4.
    TreeFami TF335596.

    Enzyme and pathway databases

    Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
    REACT_15364. Loss of Nlp from mitotic centrosomes.
    REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
    REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

    Miscellaneous databases

    ChiTaRSi ALMS1. human.
    GenomeRNAii 7840.
    NextBioi 30245.
    PROi Q8TCU4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TCU4.
    Bgeei Q8TCU4.
    CleanExi HS_ALMS1.
    Genevestigatori Q8TCU4.

    Family and domain databases

    InterProi IPR028781. ALMS1.
    IPR029299. ALMS_motif.
    [Graphical view ]
    PANTHERi PTHR21553:SF23. PTHR21553:SF23. 1 hit.
    Pfami PF15309. ALMS_motif. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome."
      Hearn T., Renforth G.L., Spalluto C., Hanley N.A., Piper K., Brickwood S., White C., Connolly V., Taylor J.F.N., Russell-Eggitt I., Bonneau D., Walker M., Wilson D.I.
      Nat. Genet. 31:79-83(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS GLY-671 AND ARG-2111; INVOLVEMENT IN ALSTROM SYNDROME, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
      Tissue: Lymphoblast.
    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
      Nagase T., Ishikawa K., Nakajima D., Ohira M., Seki N., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
      DNA Res. 4:141-150(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2066-4167 (ISOFORM 2).
      Tissue: Brain.
    4. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    5. "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] OF 2400-4167 (ISOFORM 3), VARIANTS ASN-2574 AND HIS-2672.
      Tissue: Testis.
    6. "Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome."
      Collin G.B., Marshall J.D., Ikeda A., So W.V., Russell-Eggitt I., Maffei P., Beck S., Boerkoel C., Sicolo N., Martin M., Nishina P.M., Naggert J.K.
      Nat. Genet. 31:74-78(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INVOLVEMENT IN ALSTROM SYNDROME, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    7. "Proteomic characterization of the human centrosome by protein correlation profiling."
      Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
      Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
      Tissue: Lymphoblast.
    8. "Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes."
      Hearn T., Spalluto C., Phillips V.J., Renforth G.L., Copin N., Hanley N.A., Wilson D.I.
      Diabetes 54:1581-1587(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, POSSIBLE FUNCTION.
    9. "Cep164, a novel centriole appendage protein required for primary cilium formation."
      Graser S., Stierhof Y.-D., Lavoie S.B., Gassner O.S., Lamla S., Le Clech M., Nigg E.A.
      J. Cell Biol. 179:321-330(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    10. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. "Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731."
      Knorz V.J., Spalluto C., Lessard M., Purvis T.L., Adigun F.F., Collin G.B., Hanley N.A., Wilson D.I., Hearn T.
      Mol. Biol. Cell 21:3617-3629(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, POSSIBLE FUNCTION.
    12. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
      Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
      Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2631, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    13. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiALMS1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TCU4
    Secondary accession number(s): Q53S05
    , Q580Q8, Q86VP9, Q9Y4G4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: March 7, 2006
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 107 of the entry and version 3 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
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3