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Q8TCU4

- ALMS1_HUMAN

UniProt

Q8TCU4 - ALMS1_HUMAN

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Protein

Alstrom syndrome protein 1

Gene
ALMS1, KIAA0328
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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.3 Publications

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
Complete GO annotation...

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.3 Publications

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
Complete GO annotation...

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.
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.

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

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. VSP_017347
Alternative sequencei3859 – 4167309Missing in isoform 3. VSP_017348Add
BLAST
Alternative sequencei4121 – 416747Missing in isoform 2. VSP_017349Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti13 – 131E → EE in CAD10391. 1 Publication
Sequence conflicti524 – 5241S → SP in CAD10391. 1 Publication
Sequence conflicti3416 – 34161Q → L in AAH35025. 1 Publication
Sequence conflicti3416 – 34161Q → L in AAH50330. 1 Publication
Sequence conflicti4029 – 40291R → K in CAD10391. 1 Publication
Sequence conflicti4029 – 40291R → K in BAA20786. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 106 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

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