Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q8TCU4

- ALMS1_HUMAN

UniProt

Q8TCU4 - ALMS1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Alstrom syndrome protein 1

Gene

ALMS1

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.1 Publication

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: Unplaced

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
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.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

BgeeiQ8TCU4.
CleanExiHS_ALMS1.
ExpressionAtlasiQ8TCU4. baseline and differential.
GenevestigatoriQ8TCU4.

Organism-specific databases

HPAiHPA043200.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi113598. 15 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

        10         20         30         40         50
MEPEDLPWPG ELEEEEEEEE EEEEEEEEAA AAAAANVDDV VVVEEVEEEA
60 70 80 90 100
GRELDSDSHY GPQHLESIDD EEDEEAKAWL QAHPGRILPP LSPPQHRYSE
110 120 130 140 150
GERTSLEKIV PLTCHVWQQI VYQGNSRTQI SDTNVVCLET TAQRGSGDDQ
160 170 180 190 200
KTESWHCLPQ EMDSSQTLDT SQTRFNVRTE DTEVTDFPSL EEGILTQSEN
210 220 230 240 250
QVKEPNRDLF CSPLLVIQDS FASPDLPLLT CLTQDQEFAP DSLFHQSELS
260 270 280 290 300
FAPLRGIPDK SEDTEWSSRP SEVSEALFQA TAEVASDLAS SRFSVSQHPL
310 320 330 340 350
IGSTAVGSQC PFLPSEQGNN EETISSVDEL KIPKDCDRYD DLCSYMSWKT
360 370 380 390 400
RKDTQWPENN LADKDQVSVA TSFDITDENI ATKRSDHFDA ARSYGQYWTQ
410 420 430 440 450
EDSSKQAETY LTKGLQGKVE SDVITLDGLN ENAVVCSERV AELQRKPTRE
460 470 480 490 500
SEYHSSDLRM LRMSPDTVPK APKHLKAGDT SKGGIAKVTQ SNLKSGITTT
510 520 530 540 550
PVDSDIGSHL SLSLEDLSQL AVSSLETTTG QHTDTLNQKT LADTHLTEET
560 570 580 590 600
LKVTAIPEPA DQKTATPTVL SSSHSHRGKP SIFYQQGLPD SHLTEEALKV
610 620 630 640 650
SAAPGLADQT TGMSTLTSTS YSHREKPGTF YQQELPESNL TEEPLEVSAA
660 670 680 690 700
PGPVEQKTGI PTVSSTSHSH VEDLLFFYRQ TLPDGHLTDQ ALKVSAVSGP
710 720 730 740 750
ADQKTGTATV LSTPHSHREK PGIFYQQEFA DSHQTEETLT KVSATPGPAD
760 770 780 790 800
QKTEIPAVQS SSYSQREKPS ILYPQDLADS HLPEEGLKVS AVAGPADQKT
810 820 830 840 850
GLPTVPSSAY SHREKLLVFY QQALLDSHLP EEALKVSAVS GPADGKTGTP
860 870 880 890 900
AVTSTSSASS SLGEKPSAFY QQTLPNSHLT EEALKVSIVP GPGDQKTGIP
910 920 930 940 950
SAPSSFYSHR EKPIIFSQQT LPDFLFPEEA LKVSAVSVLA AQKTGTPTVS
960 970 980 990 1000
SNSHSHSEKS SVFYQQELPD SDLPRESLKM SAIPGLTDQK TVPTPTVPSG
1010 1020 1030 1040 1050
SFSHREKPSI FYQQEWPDSY ATEKALKVST GPGPADQKTE IPAVQSSSYP
1060 1070 1080 1090 1100
QREKPSVLYP QVLSDSHLPE ESLKVSAFPG PADQMTDTPA VPSTFYSQRE
1110 1120 1130 1140 1150
KPGIFYQQTL PESHLPKEAL KISVAPGLAD QKTGTPTVTS TSYSQHREKP
1160 1170 1180 1190 1200
SIFHQQALPG THIPEEAQKV SAVTGPGNQK TWIPRVLSTF YSQREKPGIF
1210 1220 1230 1240 1250
YQQTLPGSHI PEEAQKVSPV LGPADQKTGT PTPTSASYSH TEKPGIFYQQ
1260 1270 1280 1290 1300
VLPDNHPTEE ALKISVASEP VDQTTGTPAV TSTSYSQYRE KPSIFYQQSL
1310 1320 1330 1340 1350
PSSHLTEEAK NVSAVPGPAD QKTVIPILPS TFYSHTEKPG VFYQQVLPHS
1360 1370 1380 1390 1400
HPTEEALKIS VASEPVDQTT GTPTVTSTSY SQHTEKPSIF YQQSLPGSHL
1410 1420 1430 1440 1450
TEEAKNVSAV PGPGDRKTGI PTLPSTFYSH TEKPGSFYQQ VLPHSHLPEE
1460 1470 1480 1490 1500
ALEVSVAPGP VDQTIGTPTV TSPSSSFGEK PIVIYKQAFP EGHLPEESLK
1510 1520 1530 1540 1550
VSVAPGPVGQ TTGAPTITSP SYSQHRAKSG SFYQLALLGS QIPEEALRVS
1560 1570 1580 1590 1600
SAPGPADQTT GIPTITSTSY SFGEKPIVNY KQAFPDGHLP EEALKVSIVS
1610 1620 1630 1640 1650
GPTEKKTDIP AGPLGSSALG EKPITFYRQA LLDSPLNKEV VKVSAAPGPA
1660 1670 1680 1690 1700
DQKTETLPVH STSYSNRGKP VIFYQQTLSD SHLPEEALKV PPVPGPDAQK
1710 1720 1730 1740 1750
TETPSVSSSL YSYREKPIVF YQQALPDSEL TQEALKVSAV PQPADQKTGL
1760 1770 1780 1790 1800
STVTSSFYSH TEKPNISYQQ ELPDSHLTEE ALKVSNVPGP ADQKTGVSTV
1810 1820 1830 1840 1850
TSTSYSHREK PIVSYQRELP HFTEAGLKIL RVPGPADQKT GINILPSNSY
1860 1870 1880 1890 1900
PQREHSVISY EQELPDLTEV TLKAIGVPGP ADQKTGIQIA SSSSYSNREK
1910 1920 1930 1940 1950
ASIFHQQELP DVTEEALNVF VVPGQGDRKT EIPTVPLSYY SRREKPSVIS
1960 1970 1980 1990 2000
QQELPDSHLT EEALKVSPVS IPAEQKTGIP IGLSSSYSHS HKEKLKISTV
2010 2020 2030 2040 2050
HIPDDQKTEF PAATLSSYSQ IEKPKISTVI GPNDQKTPSQ TAFHSSYSQT
2060 2070 2080 2090 2100
VKPNILFQQQ LPDRDQSKGI LKISAVPELT DVNTGKPVSL SSSYFHREKS
2110 2120 2130 2140 2150
NIFSPQELPG SHVTEDVLKV STIPGPAGQK TVLPTALPSS FSHREKPDIF
2160 2170 2180 2190 2200
YQKDLPDRHL TEDALKISSA LGQADQITGL QTVPSGTYSH GENHKLVSEH
2210 2220 2230 2240 2250
VQRLIDNLNS SDSSVSSNNV LLNSQADDRV VINKPESAGF RDVGSEEIQD
2260 2270 2280 2290 2300
AENSAKTLKE IRTLLMEAEN MALKRCNFPA PLARFRDISD ISFIQSKKVV
2310 2320 2330 2340 2350
CFKEPSSTGV SNGDLLHRQP FTEESPSSRC IQKDIGTQTN LKCRRGIENW
2360 2370 2380 2390 2400
EFISSTTVRS PLQEAESKVS MALEETLRQY QAAKSVMRSE PEGCSGTIGN
2410 2420 2430 2440 2450
KIIIPMMTVI KSDSSSDASD GNGSCSWDSN LPESLESVSD VLLNFFPYVS
2460 2470 2480 2490 2500
PKTSITDSRE EEGVSESEDG GGSSVDSLAA HVKNLLQCES SLNHAKEILR
2510 2520 2530 2540 2550
NAEEEESRVR AHAWNMKFNL AHDCGYSISE LNEDDRRKVE EIKAELFGHG
2560 2570 2580 2590 2600
RTTDLSKGLQ SPRGMGCKPE AVCSHIIIES HEKGCFRTLT SEHPQLDRHP
2610 2620 2630 2640 2650
CAFRSAGPSE MTRGRQNPSS CRAKHVNLSA SLDQNNSHFK VWNSLQLKSH
2660 2670 2680 2690 2700
SPFQNFIPDE FKISKGLRMP FDEKMDPWLS ELVEPAFVPP KEVDFHSSSQ
2710 2720 2730 2740 2750
MPSPEPMKKF TTSITFSSHR HSKCISNSSV VKVGVTEGSQ CTGASVGVFN
2760 2770 2780 2790 2800
SHFTEEQNPP RDLKQKTSSP SSFKMHSNSQ DKEVTILAEG RRQSQKLPVD
2810 2820 2830 2840 2850
FERSFQEEKP LERSDFTGSH SEPSTRANCS NFKEIQISDN HTLISMGRPS
2860 2870 2880 2890 2900
STLGVNRSSS RLGVKEKNVT ITPDLPSCIF LEQRELFEQS KAPRADDHVR
2910 2920 2930 2940 2950
KHHSPSPQHQ DYVAPDLPSC IFLEQRELFE QCKAPYVDHQ MRENHSPLPQ
2960 2970 2980 2990 3000
GQDSIASDLP SPISLEQCQS KAPGVDDQMN KHHFPLPQGQ DCVVEKNNQH
3010 3020 3030 3040 3050
KPKSHISNIN VEAKFNTVVS QSAPNHCTLA ASASTPPSNR KALSCVHITL
3060 3070 3080 3090 3100
CPKTSSKLDS GTLDERFHSL DAASKARMNS EFNFDLHTVS SRSLEPTSKL
3110 3120 3130 3140 3150
LTSKPVAQDQ ESLGFLGPKS SLDFQVVQPS LPDSNTITQD LKTIPSQNSQ
3160 3170 3180 3190 3200
IVTSRQIQVN ISDFEGHSNP EGTPVFADRL PEKMKTPLSA FSEKLSSDAV
3210 3220 3230 3240 3250
TQITTESPEK TLFSSEIFIN AEDRGHEIIE PGNQKLRKAP VKFASSSSVQ
3260 3270 3280 3290 3300
QVTFSRGTDG QPLLLPYKPS GSTKMYYVPQ LRQIPPSPDS KSDTTVESSH
3310 3320 3330 3340 3350
SGSNDAIAPD FPAQVLGTRD DDLSATVNIK HKEGIYSKRV VTKASLPVGE
3360 3370 3380 3390 3400
KPLQNENADA SVQVLITGDE NLSDKKQQEI HSTRAVTEAA QAKEKESLQK
3410 3420 3430 3440 3450
DTADSSAAAA AEHSAQVGDP EMKNLPDTKA ITQKEEIHRK KTVPEEAWPN
3460 3470 3480 3490 3500
NKESLQINIE ESECHSEFEN TTRSVFRSAK FYIHHPVHLP SDQDICHESL
3510 3520 3530 3540 3550
GKSVFMRHSW KDFFQHHPDK HREHMCLPLP YQNMDKTKTD YTRIKSLSIN
3560 3570 3580 3590 3600
VNLGNKEVMD TTKSQVRDYP KHNGQISDPQ RDQKVTPEQT TQHTVSLNEL
3610 3620 3630 3640 3650
WNKYRERQRQ QRQPELGDRK ELSLVDRLDR LAKILQNPIT HSLQVSESTH
3660 3670 3680 3690 3700
DDSRGERSVK EWSGRQQQRN KLQKKKRFKS LEKSHKNTGE LKKSKVLSHH
3710 3720 3730 3740 3750
RAGRSNQIKI EQIKFDKYIL SKQPGFNYIS NTSSDCRPSE ESELLTDTTT
3760 3770 3780 3790 3800
NILSGTTSTV ESDILTQTDR EVALHERSSS VSTIDTARLI QAFGHERVCL
3810 3820 3830 3840 3850
SPRRIKLYSS ITNQQRRYLE KRSKHSKKVL NTGHPLVTSE HTRRRHIQVA
3860 3870 3880 3890 3900
NHVISSDSIS SSASSFLSSN STFCNKQNVH MLNKGIQAGN LEIVNGAKKH
3910 3920 3930 3940 3950
TRDVGITFPT PSSSEAKLEE NSDVTSWSEE KREEKMLFTG YPEDRKLKKN
3960 3970 3980 3990 4000
KKNSHEGVSW FVPVENVESR SKKENVPNTC GPGISWFEPI TKTRPWREPL
4010 4020 4030 4040 4050
REQNCQGQHL DGRGYLAGPG REAGRDLLRP FVRATLQESL QFHRPDFISR
4060 4070 4080 4090 4100
SGERIKRLKL IVQERKLQSM LQTERDALFN IDRERQGHQN RMCPLPKRVF
4110 4120 4130 4140 4150
LAIQKNKPIS KKEMIQRSKR IYEQLPEVQK KREEEKRKSE YKSYRLRAQL
4160
YKKRVTNQLL GRKVPWD
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:
EMBLi
GenBanki
DDBJi
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.
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:
EMBLi
GenBanki
DDBJi
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. 15 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 .
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

Bgeei Q8TCU4.
CleanExi HS_ALMS1.
ExpressionAtlasi Q8TCU4. baseline and differential.
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: October 29, 2014
This is version 108 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