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Q8TCU4 (ALMS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 102. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Alstrom syndrome protein 1
Gene names
Name:ALMS1
Synonyms:KIAA0328
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length4167 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8 Ref.9 Ref.11

Subcellular location

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. Ref.7 Ref.8 Ref.11

Tissue specificity

Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level). Ref.1 Ref.6

Developmental stage

Widely expressed in fetal tissues. Detected in fetal pancreas, skeletal muscle, liver, kidney and brain (at protein level). Expressed in fetal aorta and brain. Ref.1 Ref.6

Involvement in disease

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.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DYSFO759233EBI-308651,EBI-2799016

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TCU4-1)

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: Q8TCU4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     4121-4167: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8TCU4-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 41674167Alstrom syndrome protein 1
PRO_0000225592

Regions

Repeat538 – 584471
Repeat585 – 631472
Repeat632 – 678473
Repeat679 – 725474
Repeat726 – 773485
Repeat774 – 820476
Repeat821 – 870507
Repeat871 – 917478
Repeat918 – 964479
Repeat965 – 10124810
Repeat1013 – 10594711
Repeat1060 – 11064712
Repeat1107 – 11544813
Repeat1155 – 12014714
Repeat1202 – 12484715
Repeat1249 – 12964816
Repeat1297 – 13434717
Repeat1344 – 13914818
Repeat1392 – 14384719
Repeat1439 – 14854720
Repeat1486 – 15334821
Repeat1534 – 15804722
Repeat1581 – 16274723
Repeat1628 – 16744724
Repeat1675 – 17214725
Repeat1722 – 17684726
Repeat1769 – 18154727
Repeat1816 – 18604528
Repeat1861 – 19054529
Repeat1906 – 19504530
Repeat1951 – 19984831
Repeat2059 – 21044632
Repeat2105 – 21514733
Repeat2152 – 21994834
Region538 – 2199166234 X 47 AA approximate tandem repeat
Region4035 – 4167133ALMS motif
Compositional bias2 – 7574Glu-rich

Amino acid modifications

Modified residue26311Phosphoserine Ref.12

Natural variations

Alternative sequence3850 – 38589ANHVISSDS → HGYRFHLAM in isoform 3.
VSP_017347
Alternative sequence3859 – 4167309Missing in isoform 3.
VSP_017348
Alternative sequence4121 – 416747Missing in isoform 2.
VSP_017349
Natural variant6711V → G. Ref.1
Corresponds to variant rs2037814 [ dbSNP | Ensembl ].
VAR_025433
Natural variant14121G → A.
Corresponds to variant rs6546837 [ dbSNP | Ensembl ].
VAR_056734
Natural variant18751I → V.
Corresponds to variant rs6546838 [ dbSNP | Ensembl ].
VAR_059575
Natural variant21111S → R. Ref.1
Corresponds to variant rs6724782 [ dbSNP | Ensembl ].
VAR_025434
Natural variant22841R → P.
Corresponds to variant rs6546839 [ dbSNP | Ensembl ].
VAR_059576
Natural variant25741S → N. Ref.5
Corresponds to variant rs3820700 [ dbSNP | Ensembl ].
VAR_025435
Natural variant26721D → H. Ref.5
Corresponds to variant rs2017116 [ dbSNP | Ensembl ].
VAR_025436
Natural variant28561N → S.
Corresponds to variant rs10193972 [ dbSNP | Ensembl ].
VAR_059577
Natural variant34341K → E.
Corresponds to variant rs34071195 [ dbSNP | Ensembl ].
VAR_059578

Experimental info

Sequence conflict131E → EE in CAD10391. Ref.1
Sequence conflict5241S → SP in CAD10391. Ref.1
Sequence conflict34161Q → L in AAH35025. Ref.5
Sequence conflict34161Q → L in AAH50330. Ref.5
Sequence conflict40291R → K in CAD10391. Ref.1
Sequence conflict40291R → K in BAA20786. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 62184D40C6CF5019

FASTA4,167460,965
        10         20         30         40         50         60 
MEPEDLPWPG ELEEEEEEEE EEEEEEEEAA AAAAANVDDV VVVEEVEEEA GRELDSDSHY 

        70         80         90        100        110        120 
GPQHLESIDD EEDEEAKAWL QAHPGRILPP LSPPQHRYSE GERTSLEKIV PLTCHVWQQI 

       130        140        150        160        170        180 
VYQGNSRTQI SDTNVVCLET TAQRGSGDDQ KTESWHCLPQ EMDSSQTLDT SQTRFNVRTE 

       190        200        210        220        230        240 
DTEVTDFPSL EEGILTQSEN QVKEPNRDLF CSPLLVIQDS FASPDLPLLT CLTQDQEFAP 

       250        260        270        280        290        300 
DSLFHQSELS FAPLRGIPDK SEDTEWSSRP SEVSEALFQA TAEVASDLAS SRFSVSQHPL 

       310        320        330        340        350        360 
IGSTAVGSQC PFLPSEQGNN EETISSVDEL KIPKDCDRYD DLCSYMSWKT RKDTQWPENN 

       370        380        390        400        410        420 
LADKDQVSVA TSFDITDENI ATKRSDHFDA ARSYGQYWTQ EDSSKQAETY LTKGLQGKVE 

       430        440        450        460        470        480 
SDVITLDGLN ENAVVCSERV AELQRKPTRE SEYHSSDLRM LRMSPDTVPK APKHLKAGDT 

       490        500        510        520        530        540 
SKGGIAKVTQ SNLKSGITTT PVDSDIGSHL SLSLEDLSQL AVSSLETTTG QHTDTLNQKT 

       550        560        570        580        590        600 
LADTHLTEET LKVTAIPEPA DQKTATPTVL SSSHSHRGKP SIFYQQGLPD SHLTEEALKV 

       610        620        630        640        650        660 
SAAPGLADQT TGMSTLTSTS YSHREKPGTF YQQELPESNL TEEPLEVSAA PGPVEQKTGI 

       670        680        690        700        710        720 
PTVSSTSHSH VEDLLFFYRQ TLPDGHLTDQ ALKVSAVSGP ADQKTGTATV LSTPHSHREK 

       730        740        750        760        770        780 
PGIFYQQEFA DSHQTEETLT KVSATPGPAD QKTEIPAVQS SSYSQREKPS ILYPQDLADS 

       790        800        810        820        830        840 
HLPEEGLKVS AVAGPADQKT GLPTVPSSAY SHREKLLVFY QQALLDSHLP EEALKVSAVS 

       850        860        870        880        890        900 
GPADGKTGTP AVTSTSSASS SLGEKPSAFY QQTLPNSHLT EEALKVSIVP GPGDQKTGIP 

       910        920        930        940        950        960 
SAPSSFYSHR EKPIIFSQQT LPDFLFPEEA LKVSAVSVLA AQKTGTPTVS SNSHSHSEKS 

       970        980        990       1000       1010       1020 
SVFYQQELPD SDLPRESLKM SAIPGLTDQK TVPTPTVPSG SFSHREKPSI FYQQEWPDSY 

      1030       1040       1050       1060       1070       1080 
ATEKALKVST GPGPADQKTE IPAVQSSSYP QREKPSVLYP QVLSDSHLPE ESLKVSAFPG 

      1090       1100       1110       1120       1130       1140 
PADQMTDTPA VPSTFYSQRE KPGIFYQQTL PESHLPKEAL KISVAPGLAD QKTGTPTVTS 

      1150       1160       1170       1180       1190       1200 
TSYSQHREKP SIFHQQALPG THIPEEAQKV SAVTGPGNQK TWIPRVLSTF YSQREKPGIF 

      1210       1220       1230       1240       1250       1260 
YQQTLPGSHI PEEAQKVSPV LGPADQKTGT PTPTSASYSH TEKPGIFYQQ VLPDNHPTEE 

      1270       1280       1290       1300       1310       1320 
ALKISVASEP VDQTTGTPAV TSTSYSQYRE KPSIFYQQSL PSSHLTEEAK NVSAVPGPAD 

      1330       1340       1350       1360       1370       1380 
QKTVIPILPS TFYSHTEKPG VFYQQVLPHS HPTEEALKIS VASEPVDQTT GTPTVTSTSY 

      1390       1400       1410       1420       1430       1440 
SQHTEKPSIF YQQSLPGSHL TEEAKNVSAV PGPGDRKTGI PTLPSTFYSH TEKPGSFYQQ 

      1450       1460       1470       1480       1490       1500 
VLPHSHLPEE ALEVSVAPGP VDQTIGTPTV TSPSSSFGEK PIVIYKQAFP EGHLPEESLK 

      1510       1520       1530       1540       1550       1560 
VSVAPGPVGQ TTGAPTITSP SYSQHRAKSG SFYQLALLGS QIPEEALRVS SAPGPADQTT 

      1570       1580       1590       1600       1610       1620 
GIPTITSTSY SFGEKPIVNY KQAFPDGHLP EEALKVSIVS GPTEKKTDIP AGPLGSSALG 

      1630       1640       1650       1660       1670       1680 
EKPITFYRQA LLDSPLNKEV VKVSAAPGPA DQKTETLPVH STSYSNRGKP VIFYQQTLSD 

      1690       1700       1710       1720       1730       1740 
SHLPEEALKV PPVPGPDAQK TETPSVSSSL YSYREKPIVF YQQALPDSEL TQEALKVSAV 

      1750       1760       1770       1780       1790       1800 
PQPADQKTGL STVTSSFYSH TEKPNISYQQ ELPDSHLTEE ALKVSNVPGP ADQKTGVSTV 

      1810       1820       1830       1840       1850       1860 
TSTSYSHREK PIVSYQRELP HFTEAGLKIL RVPGPADQKT GINILPSNSY PQREHSVISY 

      1870       1880       1890       1900       1910       1920 
EQELPDLTEV TLKAIGVPGP ADQKTGIQIA SSSSYSNREK ASIFHQQELP DVTEEALNVF 

      1930       1940       1950       1960       1970       1980 
VVPGQGDRKT EIPTVPLSYY SRREKPSVIS QQELPDSHLT EEALKVSPVS IPAEQKTGIP 

      1990       2000       2010       2020       2030       2040 
IGLSSSYSHS HKEKLKISTV HIPDDQKTEF PAATLSSYSQ IEKPKISTVI GPNDQKTPSQ 

      2050       2060       2070       2080       2090       2100 
TAFHSSYSQT VKPNILFQQQ LPDRDQSKGI LKISAVPELT DVNTGKPVSL SSSYFHREKS 

      2110       2120       2130       2140       2150       2160 
NIFSPQELPG SHVTEDVLKV STIPGPAGQK TVLPTALPSS FSHREKPDIF YQKDLPDRHL 

      2170       2180       2190       2200       2210       2220 
TEDALKISSA LGQADQITGL QTVPSGTYSH GENHKLVSEH VQRLIDNLNS SDSSVSSNNV 

      2230       2240       2250       2260       2270       2280 
LLNSQADDRV VINKPESAGF RDVGSEEIQD AENSAKTLKE IRTLLMEAEN MALKRCNFPA 

      2290       2300       2310       2320       2330       2340 
PLARFRDISD ISFIQSKKVV CFKEPSSTGV SNGDLLHRQP FTEESPSSRC IQKDIGTQTN 

      2350       2360       2370       2380       2390       2400 
LKCRRGIENW EFISSTTVRS PLQEAESKVS MALEETLRQY QAAKSVMRSE PEGCSGTIGN 

      2410       2420       2430       2440       2450       2460 
KIIIPMMTVI KSDSSSDASD GNGSCSWDSN LPESLESVSD VLLNFFPYVS PKTSITDSRE 

      2470       2480       2490       2500       2510       2520 
EEGVSESEDG GGSSVDSLAA HVKNLLQCES SLNHAKEILR NAEEEESRVR AHAWNMKFNL 

      2530       2540       2550       2560       2570       2580 
AHDCGYSISE LNEDDRRKVE EIKAELFGHG RTTDLSKGLQ SPRGMGCKPE AVCSHIIIES 

      2590       2600       2610       2620       2630       2640 
HEKGCFRTLT SEHPQLDRHP CAFRSAGPSE MTRGRQNPSS CRAKHVNLSA SLDQNNSHFK 

      2650       2660       2670       2680       2690       2700 
VWNSLQLKSH SPFQNFIPDE FKISKGLRMP FDEKMDPWLS ELVEPAFVPP KEVDFHSSSQ 

      2710       2720       2730       2740       2750       2760 
MPSPEPMKKF TTSITFSSHR HSKCISNSSV VKVGVTEGSQ CTGASVGVFN SHFTEEQNPP 

      2770       2780       2790       2800       2810       2820 
RDLKQKTSSP SSFKMHSNSQ DKEVTILAEG RRQSQKLPVD FERSFQEEKP LERSDFTGSH 

      2830       2840       2850       2860       2870       2880 
SEPSTRANCS NFKEIQISDN HTLISMGRPS STLGVNRSSS RLGVKEKNVT ITPDLPSCIF 

      2890       2900       2910       2920       2930       2940 
LEQRELFEQS KAPRADDHVR KHHSPSPQHQ DYVAPDLPSC IFLEQRELFE QCKAPYVDHQ 

      2950       2960       2970       2980       2990       3000 
MRENHSPLPQ GQDSIASDLP SPISLEQCQS KAPGVDDQMN KHHFPLPQGQ DCVVEKNNQH 

      3010       3020       3030       3040       3050       3060 
KPKSHISNIN VEAKFNTVVS QSAPNHCTLA ASASTPPSNR KALSCVHITL CPKTSSKLDS 

      3070       3080       3090       3100       3110       3120 
GTLDERFHSL DAASKARMNS EFNFDLHTVS SRSLEPTSKL LTSKPVAQDQ ESLGFLGPKS 

      3130       3140       3150       3160       3170       3180 
SLDFQVVQPS LPDSNTITQD LKTIPSQNSQ IVTSRQIQVN ISDFEGHSNP EGTPVFADRL 

      3190       3200       3210       3220       3230       3240 
PEKMKTPLSA FSEKLSSDAV TQITTESPEK TLFSSEIFIN AEDRGHEIIE PGNQKLRKAP 

      3250       3260       3270       3280       3290       3300 
VKFASSSSVQ QVTFSRGTDG QPLLLPYKPS GSTKMYYVPQ LRQIPPSPDS KSDTTVESSH 

      3310       3320       3330       3340       3350       3360 
SGSNDAIAPD FPAQVLGTRD DDLSATVNIK HKEGIYSKRV VTKASLPVGE KPLQNENADA 

      3370       3380       3390       3400       3410       3420 
SVQVLITGDE NLSDKKQQEI HSTRAVTEAA QAKEKESLQK DTADSSAAAA AEHSAQVGDP 

      3430       3440       3450       3460       3470       3480 
EMKNLPDTKA ITQKEEIHRK KTVPEEAWPN NKESLQINIE ESECHSEFEN TTRSVFRSAK 

      3490       3500       3510       3520       3530       3540 
FYIHHPVHLP SDQDICHESL GKSVFMRHSW KDFFQHHPDK HREHMCLPLP YQNMDKTKTD 

      3550       3560       3570       3580       3590       3600 
YTRIKSLSIN VNLGNKEVMD TTKSQVRDYP KHNGQISDPQ RDQKVTPEQT TQHTVSLNEL 

      3610       3620       3630       3640       3650       3660 
WNKYRERQRQ QRQPELGDRK ELSLVDRLDR LAKILQNPIT HSLQVSESTH DDSRGERSVK 

      3670       3680       3690       3700       3710       3720 
EWSGRQQQRN KLQKKKRFKS LEKSHKNTGE LKKSKVLSHH RAGRSNQIKI EQIKFDKYIL 

      3730       3740       3750       3760       3770       3780 
SKQPGFNYIS NTSSDCRPSE ESELLTDTTT NILSGTTSTV ESDILTQTDR EVALHERSSS 

      3790       3800       3810       3820       3830       3840 
VSTIDTARLI QAFGHERVCL SPRRIKLYSS ITNQQRRYLE KRSKHSKKVL NTGHPLVTSE 

      3850       3860       3870       3880       3890       3900 
HTRRRHIQVA NHVISSDSIS SSASSFLSSN STFCNKQNVH MLNKGIQAGN LEIVNGAKKH 

      3910       3920       3930       3940       3950       3960 
TRDVGITFPT PSSSEAKLEE NSDVTSWSEE KREEKMLFTG YPEDRKLKKN KKNSHEGVSW 

      3970       3980       3990       4000       4010       4020 
FVPVENVESR SKKENVPNTC GPGISWFEPI TKTRPWREPL REQNCQGQHL DGRGYLAGPG 

      4030       4040       4050       4060       4070       4080 
REAGRDLLRP FVRATLQESL QFHRPDFISR SGERIKRLKL IVQERKLQSM LQTERDALFN 

      4090       4100       4110       4120       4130       4140 
IDRERQGHQN RMCPLPKRVF LAIQKNKPIS KKEMIQRSKR IYEQLPEVQK KREEEKRKSE 

      4150       4160 
YKSYRLRAQL YKKRVTNQLL GRKVPWD 

« Hide

Isoform 2 [UniParc].

Checksum: CCA51709F850E380
Show »

FASTA4,120455,073
Isoform 3 [UniParc].

Checksum: 00DA5BFFE7914F8B
Show »

FASTA3,858425,137

References

« Hide 'large scale' references
[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. 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].
[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]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
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]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_055935.4. NM_015120.4.
UniGeneHs.184720.

3D structure databases

ProteinModelPortalQ8TCU4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid113598. 7 interactions.
IntActQ8TCU4. 6 interactions.
STRING9606.ENSP00000264448.

PTM databases

PhosphoSiteQ8TCU4.

Polymorphism databases

DMDM296439448.

Proteomic databases

PaxDbQ8TCU4.
PRIDEQ8TCU4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000264448; ENSP00000264448; ENSG00000116127. [Q8TCU4-1]
GeneID7840.
KEGGhsa:7840.
UCSCuc002sje.1. human. [Q8TCU4-1]
uc002sjg.3. human. [Q8TCU4-3]

Organism-specific databases

CTD7840.
GeneCardsGC02P073612.
H-InvDBHIX0002163.
HGNCHGNC:428. ALMS1.
HPAHPA043200.
MIM203800. phenotype.
606844. gene.
neXtProtNX_Q8TCU4.
Orphanet64. Alstrom syndrome.
PharmGKBPA24721.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG45093.
HOGENOMHOG000089988.
HOVERGENHBG080834.
InParanoidQ8TCU4.
KOK16741.
OMAPSIFYQQ.
PhylomeDBQ8TCU4.
TreeFamTF335596.

Enzyme and pathway databases

ReactomeREACT_115566. Cell Cycle.

Gene expression databases

ArrayExpressQ8TCU4.
BgeeQ8TCU4.
CleanExHS_ALMS1.
GenevestigatorQ8TCU4.

Family and domain databases

InterProIPR028781. ALMS1.
[Graphical view]
PANTHERPTHR21553:SF18. PTHR21553:SF18. 1 hit.
ProtoNetSearch...

Other

ChiTaRSALMS1. human.
GenomeRNAi7840.
NextBio30245.
PROQ8TCU4.
SOURCESearch...

Entry information

Entry nameALMS1_HUMAN
AccessionPrimary (citable) accession number: Q8TCU4
Secondary accession number(s): Q53S05 expand/collapse secondary AC list , Q580Q8, Q86VP9, Q9Y4G4
Entry history
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: May 18, 2010
Last modified: April 16, 2014
This is version 102 of the entry and version 3 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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