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Protein

Alstrom syndrome protein 1

Gene

ALMS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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 - Molecular functioni

GO - Biological processi

  • cilium assembly Source: GO_Central
  • endosomal transport Source: MGI
  • G2/M transition of mitotic cell cycle Source: Reactome
  • regulation of stress fiber assembly Source: MGI
Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000116127-MONOMER.
ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-8854518. AURKA Activation by TPX2.

Names & Taxonomyi

Protein namesi
Recommended name:
Alstrom syndrome protein 1
Gene namesi
Name:ALMS1
Synonyms:KIAA0328
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:428. ALMS1.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • cytoplasm Source: HPA
  • cytosol Source: Reactome
  • motile cilium Source: GO_Central
  • nucleus Source: HPA
  • spindle pole Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Alstrom syndrome (ALMS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:203800

Keywords - Diseasei

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

Organism-specific databases

DisGeNETi7840.
MalaCardsiALMS1.
MIMi203800. phenotype.
Orphaneti64. Alstrom syndrome.
PharmGKBiPA24721.

Polymorphism and mutation databases

BioMutaiALMS1.
DMDMi296439448.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002255921 – 4167Alstrom syndrome protein 1Add BLAST4167

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei464PhosphoserineCombined sources1
Modified residuei1188PhosphoserineCombined sources1
Modified residuei2142PhosphoserineCombined sources1
Modified residuei2465PhosphoserineCombined sources1
Modified residuei2631PhosphoserineCombined sources1
Modified residuei2804PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TCU4.
MaxQBiQ8TCU4.
PaxDbiQ8TCU4.
PeptideAtlasiQ8TCU4.
PRIDEiQ8TCU4.

PTM databases

iPTMnetiQ8TCU4.
PhosphoSitePlusiQ8TCU4.

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

BgeeiENSG00000116127.
CleanExiHS_ALMS1.

Organism-specific databases

HPAiHPA043200.
HPA057939.

Interactioni

Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113598. 45 interactors.
IntActiQ8TCU4. 18 interactors.
STRINGi9606.ENSP00000264448.

Structurei

3D structure databases

ProteinModelPortaliQ8TCU4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati538 – 5841Add BLAST47
Repeati585 – 6312Add BLAST47
Repeati632 – 6783Add BLAST47
Repeati679 – 7254Add BLAST47
Repeati726 – 7735Add BLAST48
Repeati774 – 8206Add BLAST47
Repeati821 – 8707Add BLAST50
Repeati871 – 9178Add BLAST47
Repeati918 – 9649Add BLAST47
Repeati965 – 101210Add BLAST48
Repeati1013 – 105911Add BLAST47
Repeati1060 – 110612Add BLAST47
Repeati1107 – 115413Add BLAST48
Repeati1155 – 120114Add BLAST47
Repeati1202 – 124815Add BLAST47
Repeati1249 – 129616Add BLAST48
Repeati1297 – 134317Add BLAST47
Repeati1344 – 139118Add BLAST48
Repeati1392 – 143819Add BLAST47
Repeati1439 – 148520Add BLAST47
Repeati1486 – 153321Add BLAST48
Repeati1534 – 158022Add BLAST47
Repeati1581 – 162723Add BLAST47
Repeati1628 – 167424Add BLAST47
Repeati1675 – 172125Add BLAST47
Repeati1722 – 176826Add BLAST47
Repeati1769 – 181527Add BLAST47
Repeati1816 – 186028Add BLAST45
Repeati1861 – 190529Add BLAST45
Repeati1906 – 195030Add BLAST45
Repeati1951 – 199831Add BLAST48
Repeati2059 – 210432Add BLAST46
Repeati2105 – 215133Add BLAST47
Repeati2152 – 219934Add BLAST48

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni538 – 219934 X 47 AA approximate tandem repeatAdd BLAST1662
Regioni4035 – 4167ALMS motifAdd BLAST133

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi2 – 75Glu-richAdd BLAST74

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IF7R. Eukaryota.
ENOG4111TD2. LUCA.
HOGENOMiHOG000089988.
HOVERGENiHBG080834.
InParanoidiQ8TCU4.
KOiK16741.
PhylomeDBiQ8TCU4.
TreeFamiTF335596.

Family and domain databases

InterProiIPR028781. ALMS1.
IPR029299. ALMS_motif.
[Graphical view]
PANTHERiPTHR21553:SF22. PTHR21553:SF22. 3 hits.
PfamiPF15309. ALMS_motif. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti13E → EE in CAD10391 (PubMed:11941370).Curated1
Sequence conflicti524S → SP in CAD10391 (PubMed:11941370).Curated1
Sequence conflicti3416Q → L in AAH35025 (PubMed:15489334).Curated1
Sequence conflicti3416Q → L in AAH50330 (PubMed:15489334).Curated1
Sequence conflicti4029R → K in CAD10391 (PubMed:11941370).Curated1
Sequence conflicti4029R → K in BAA20786 (PubMed:9205841).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025433671V → G.1 PublicationCorresponds to variant rs2037814dbSNPEnsembl.1
Natural variantiVAR_0567341412G → A.Corresponds to variant rs6546837dbSNPEnsembl.1
Natural variantiVAR_0595751875I → V.Corresponds to variant rs6546838dbSNPEnsembl.1
Natural variantiVAR_0254342111S → R.1 PublicationCorresponds to variant rs6724782dbSNPEnsembl.1
Natural variantiVAR_0595762284R → P.Corresponds to variant rs6546839dbSNPEnsembl.1
Natural variantiVAR_0254352574S → N.1 PublicationCorresponds to variant rs3820700dbSNPEnsembl.1
Natural variantiVAR_0254362672D → H.1 PublicationCorresponds to variant rs2017116dbSNPEnsembl.1
Natural variantiVAR_0595772856N → S.Corresponds to variant rs10193972dbSNPEnsembl.1
Natural variantiVAR_0595783434K → E.Corresponds to variant rs34071195dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0173473850 – 3858ANHVISSDS → HGYRFHLAM in isoform 3. 1 Publication9
Alternative sequenceiVSP_0173483859 – 4167Missing in isoform 3. 1 PublicationAdd BLAST309
Alternative sequenceiVSP_0173494121 – 4167Missing in isoform 2. 1 PublicationAdd BLAST47

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.

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.
RefSeqiNP_055935.4. NM_015120.4.
UniGeneiHs.184720.

3D structure databases

ProteinModelPortaliQ8TCU4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113598. 45 interactors.
IntActiQ8TCU4. 18 interactors.
STRINGi9606.ENSP00000264448.

PTM databases

iPTMnetiQ8TCU4.
PhosphoSitePlusiQ8TCU4.

Polymorphism and mutation databases

BioMutaiALMS1.
DMDMi296439448.

Proteomic databases

EPDiQ8TCU4.
MaxQBiQ8TCU4.
PaxDbiQ8TCU4.
PeptideAtlasiQ8TCU4.
PRIDEiQ8TCU4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264448; ENSP00000264448; ENSG00000116127.
GeneIDi7840.
KEGGihsa:7840.

Organism-specific databases

CTDi7840.
DisGeNETi7840.
GeneCardsiALMS1.
GeneReviewsiALMS1.
H-InvDBHIX0002163.
HGNCiHGNC:428. ALMS1.
HPAiHPA043200.
HPA057939.
MalaCardsiALMS1.
MIMi203800. phenotype.
606844. gene.
neXtProtiNX_Q8TCU4.
Orphaneti64. Alstrom syndrome.
PharmGKBiPA24721.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF7R. Eukaryota.
ENOG4111TD2. LUCA.
HOGENOMiHOG000089988.
HOVERGENiHBG080834.
InParanoidiQ8TCU4.
KOiK16741.
PhylomeDBiQ8TCU4.
TreeFamiTF335596.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000116127-MONOMER.
ReactomeiR-HSA-2565942. Regulation of PLK1 Activity at G2/M Transition.
R-HSA-380259. Loss of Nlp from mitotic centrosomes.
R-HSA-380270. Recruitment of mitotic centrosome proteins and complexes.
R-HSA-5620912. Anchoring of the basal body to the plasma membrane.
R-HSA-8854518. AURKA Activation by TPX2.

Miscellaneous databases

ChiTaRSiALMS1. human.
GenomeRNAii7840.
PROiQ8TCU4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116127.
CleanExiHS_ALMS1.

Family and domain databases

InterProiIPR028781. ALMS1.
IPR029299. ALMS_motif.
[Graphical view]
PANTHERiPTHR21553:SF22. PTHR21553:SF22. 3 hits.
PfamiPF15309. ALMS_motif. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 128 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.