UniProtKB - Q8TCU4 (ALMS1_HUMAN)
Protein
Alstrom syndrome protein 1
Gene
ALMS1
Organism
Homo sapiens (Human)
Status
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
- microtubule binding Source: GO_Central
GO - Biological processi
- ciliary basal body-plasma membrane docking Source: Reactome
- endosomal transport Source: MGI
- G2/M transition of mitotic cell cycle Source: Reactome
- positive regulation of cold-induced thermogenesis Source: YuBioLab
- regulation of centriole replication Source: GO_Central
- regulation of G2/M transition of mitotic cell cycle Source: Reactome
- regulation of stress fiber assembly Source: MGI
Enzyme and pathway databases
PathwayCommonsi | Q8TCU4 |
Reactomei | R-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-380284, Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-380320, Recruitment of NuMA to mitotic centrosomes 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 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:428, ALMS1 |
MIMi | 606844, gene |
neXtProti | NX_Q8TCU4 |
VEuPathDBi | HostDB:ENSG00000116127.17 |
Subcellular locationi
Cytoplasm and Cytosol
Cytoskeleton
- centrosome 1 Publication
- cilium basal body
- spindle 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.
Cytoskeleton
- centrosome Source: UniProtKB
- spindle pole Source: UniProtKB-SubCell
Cytosol
- cytosol Source: GO_Central
Other locations
- cilium Source: UniProtKB-KW
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Alstrom syndrome (ALMS)2 Publications
The disease is caused by variants 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.
Related information in OMIMKeywords - Diseasei
Ciliopathy, Cone-rod dystrophy, Deafness, Diabetes mellitus, ObesityOrganism-specific databases
DisGeNETi | 7840 |
GeneReviewsi | ALMS1 |
MalaCardsi | ALMS1 |
MIMi | 203800, phenotype |
OpenTargetsi | ENSG00000116127 |
Orphaneti | 64, Alstroem syndrome |
PharmGKBi | PA24721 |
Miscellaneous databases
Pharosi | Q8TCU4, Tbio |
Genetic variation databases
BioMutai | ALMS1 |
DMDMi | 296439448 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000225592 | 1 – 4168 | Alstrom syndrome protein 1Add BLAST | 4168 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 464 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1189 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2143 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2466 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2632 | PhosphoserineCombined sources | 1 | |
Modified residuei | 2805 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q8TCU4 |
jPOSTi | Q8TCU4 |
MassIVEi | Q8TCU4 |
MaxQBi | Q8TCU4 |
PaxDbi | Q8TCU4 |
PeptideAtlasi | Q8TCU4 |
PRIDEi | Q8TCU4 |
ProteomicsDBi | 74171 [Q8TCU4-1] 74172 [Q8TCU4-2] 74173 [Q8TCU4-3] |
PTM databases
CarbonylDBi | Q8TCU4 |
iPTMneti | Q8TCU4 |
PhosphoSitePlusi | Q8TCU4 |
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
Bgeei | ENSG00000116127, Expressed in amniotic fluid and 237 other tissues |
ExpressionAtlasi | Q8TCU4, baseline and differential |
Interactioni
GO - Molecular functioni
- microtubule binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 113598, 87 interactors |
IntActi | Q8TCU4, 50 interactors |
MINTi | Q8TCU4 |
STRINGi | 9606.ENSP00000482968 |
Miscellaneous databases
RNActi | Q8TCU4, protein |
Family & Domainsi
Domains and Repeats
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 539 – 2200 | 34 X 47 AA approximate tandem repeatAdd BLAST | 1662 | |
Regioni | 4036 – 4167 | ALMS motifAdd BLAST | 132 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 2 – 75 | Glu-richAdd BLAST | 74 |
Sequence similaritiesi
Belongs to the ALMS1 family.Curated
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG4613, Eukaryota |
GeneTreei | ENSGT00940000153123 |
InParanoidi | Q8TCU4 |
OMAi | HMLNKGV |
OrthoDBi | 9342at2759 |
PhylomeDBi | Q8TCU4 |
TreeFami | TF335596 |
Family and domain databases
InterProi | View protein in InterPro IPR028781, ALMS1 IPR029299, ALMS_motif IPR040972, ALMS_repeat |
PANTHERi | PTHR21553:SF22, PTHR21553:SF22, 14 hits |
Pfami | View protein in Pfam PF15309, ALMS_motif, 1 hit PF18727, ALMS_repeat, 35 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q8TCU4-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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 AVSSPLETTT GQHTDTLNQK TLADTHLTEE
560 570 580 590 600
TLKVTAIPEP ADQKTATPTV LSSSHSHRGK PSIFYQQGLP DSHLTEEALK
610 620 630 640 650
VSAAPGLADQ TTGMSTLTST SYSHREKPGT FYQQELPESN LTEEPLEVSA
660 670 680 690 700
APGPVEQKTG IPTVSSTSHS HVEDLLFFYR QTLPDGHLTD QALKVSAVSG
710 720 730 740 750
PADQKTGTAT VLSTPHSHRE KPGIFYQQEF ADSHQTEETL TKVSATPGPA
760 770 780 790 800
DQKTEIPAVQ SSSYSQREKP SILYPQDLAD SHLPEEGLKV SAVAGPADQK
810 820 830 840 850
TGLPTVPSSA YSHREKLLVF YQQALLDSHL PEEALKVSAV SGPADGKTGT
860 870 880 890 900
PAVTSTSSAS SSLGEKPSAF YQQTLPNSHL TEEALKVSIV PGPGDQKTGI
910 920 930 940 950
PSAPSSFYSH REKPIIFSQQ TLPDFLFPEE ALKVSAVSVL AAQKTGTPTV
960 970 980 990 1000
SSNSHSHSEK SSVFYQQELP DSDLPRESLK MSAIPGLTDQ KTVPTPTVPS
1010 1020 1030 1040 1050
GSFSHREKPS IFYQQEWPDS YATEKALKVS TGPGPADQKT EIPAVQSSSY
1060 1070 1080 1090 1100
PQREKPSVLY PQVLSDSHLP EESLKVSAFP GPADQMTDTP AVPSTFYSQR
1110 1120 1130 1140 1150
EKPGIFYQQT LPESHLPKEA LKISVAPGLA DQKTGTPTVT STSYSQHREK
1160 1170 1180 1190 1200
PSIFHQQALP GTHIPEEAQK VSAVTGPGNQ KTWIPRVLST FYSQREKPGI
1210 1220 1230 1240 1250
FYQQTLPGSH IPEEAQKVSP VLGPADQKTG TPTPTSASYS HTEKPGIFYQ
1260 1270 1280 1290 1300
QVLPDNHPTE EALKISVASE PVDQTTGTPA VTSTSYSQYR EKPSIFYQQS
1310 1320 1330 1340 1350
LPSSHLTEEA KNVSAVPGPA DQKTVIPILP STFYSHTEKP GVFYQQVLPH
1360 1370 1380 1390 1400
SHPTEEALKI SVASEPVDQT TGTPTVTSTS YSQHTEKPSI FYQQSLPGSH
1410 1420 1430 1440 1450
LTEEAKNVSA VPGPGDRKTG IPTLPSTFYS HTEKPGSFYQ QVLPHSHLPE
1460 1470 1480 1490 1500
EALEVSVAPG PVDQTIGTPT VTSPSSSFGE KPIVIYKQAF PEGHLPEESL
1510 1520 1530 1540 1550
KVSVAPGPVG QTTGAPTITS PSYSQHRAKS GSFYQLALLG SQIPEEALRV
1560 1570 1580 1590 1600
SSAPGPADQT TGIPTITSTS YSFGEKPIVN YKQAFPDGHL PEEALKVSIV
1610 1620 1630 1640 1650
SGPTEKKTDI PAGPLGSSAL GEKPITFYRQ ALLDSPLNKE VVKVSAAPGP
1660 1670 1680 1690 1700
ADQKTETLPV HSTSYSNRGK PVIFYQQTLS DSHLPEEALK VPPVPGPDAQ
1710 1720 1730 1740 1750
KTETPSVSSS LYSYREKPIV FYQQALPDSE LTQEALKVSA VPQPADQKTG
1760 1770 1780 1790 1800
LSTVTSSFYS HTEKPNISYQ QELPDSHLTE EALKVSNVPG PADQKTGVST
1810 1820 1830 1840 1850
VTSTSYSHRE KPIVSYQREL PHFTEAGLKI LRVPGPADQK TGINILPSNS
1860 1870 1880 1890 1900
YPQREHSVIS YEQELPDLTE VTLKAIGVPG PADQKTGIQI ASSSSYSNRE
1910 1920 1930 1940 1950
KASIFHQQEL PDVTEEALNV FVVPGQGDRK TEIPTVPLSY YSRREKPSVI
1960 1970 1980 1990 2000
SQQELPDSHL TEEALKVSPV SIPAEQKTGI PIGLSSSYSH SHKEKLKIST
2010 2020 2030 2040 2050
VHIPDDQKTE FPAATLSSYS QIEKPKISTV IGPNDQKTPS QTAFHSSYSQ
2060 2070 2080 2090 2100
TVKPNILFQQ QLPDRDQSKG ILKISAVPEL TDVNTGKPVS LSSSYFHREK
2110 2120 2130 2140 2150
SNIFSPQELP GSHVTEDVLK VSTIPGPAGQ KTVLPTALPS SFSHREKPDI
2160 2170 2180 2190 2200
FYQKDLPDRH LTEDALKISS ALGQADQITG LQTVPSGTYS HGENHKLVSE
2210 2220 2230 2240 2250
HVQRLIDNLN SSDSSVSSNN VLLNSQADDR VVINKPESAG FRDVGSEEIQ
2260 2270 2280 2290 2300
DAENSAKTLK EIRTLLMEAE NMALKRCNFP APLARFRDIS DISFIQSKKV
2310 2320 2330 2340 2350
VCFKEPSSTG VSNGDLLHRQ PFTEESPSSR CIQKDIGTQT NLKCRRGIEN
2360 2370 2380 2390 2400
WEFISSTTVR SPLQEAESKV SMALEETLRQ YQAAKSVMRS EPEGCSGTIG
2410 2420 2430 2440 2450
NKIIIPMMTV IKSDSSSDAS DGNGSCSWDS NLPESLESVS DVLLNFFPYV
2460 2470 2480 2490 2500
SPKTSITDSR EEEGVSESED GGGSSVDSLA AHVKNLLQCE SSLNHAKEIL
2510 2520 2530 2540 2550
RNAEEEESRV RAHAWNMKFN LAHDCGYSIS ELNEDDRRKV EEIKAELFGH
2560 2570 2580 2590 2600
GRTTDLSKGL QSPRGMGCKP EAVCSHIIIE SHEKGCFRTL TSEHPQLDRH
2610 2620 2630 2640 2650
PCAFRSAGPS EMTRGRQNPS SCRAKHVNLS ASLDQNNSHF KVWNSLQLKS
2660 2670 2680 2690 2700
HSPFQNFIPD EFKISKGLRM PFDEKMDPWL SELVEPAFVP PKEVDFHSSS
2710 2720 2730 2740 2750
QMPSPEPMKK FTTSITFSSH RHSKCISNSS VVKVGVTEGS QCTGASVGVF
2760 2770 2780 2790 2800
NSHFTEEQNP PRDLKQKTSS PSSFKMHSNS QDKEVTILAE GRRQSQKLPV
2810 2820 2830 2840 2850
DFERSFQEEK PLERSDFTGS HSEPSTRANC SNFKEIQISD NHTLISMGRP
2860 2870 2880 2890 2900
SSTLGVNRSS SRLGVKEKNV TITPDLPSCI FLEQRELFEQ SKAPRADDHV
2910 2920 2930 2940 2950
RKHHSPSPQH QDYVAPDLPS CIFLEQRELF EQCKAPYVDH QMRENHSPLP
2960 2970 2980 2990 3000
QGQDSIASDL PSPISLEQCQ SKAPGVDDQM NKHHFPLPQG QDCVVEKNNQ
3010 3020 3030 3040 3050
HKPKSHISNI NVEAKFNTVV SQSAPNHCTL AASASTPPSN RKALSCVHIT
3060 3070 3080 3090 3100
LCPKTSSKLD SGTLDERFHS LDAASKARMN SEFNFDLHTV SSRSLEPTSK
3110 3120 3130 3140 3150
LLTSKPVAQD QESLGFLGPK SSLDFQVVQP SLPDSNTITQ DLKTIPSQNS
3160 3170 3180 3190 3200
QIVTSRQIQV NISDFEGHSN PEGTPVFADR LPEKMKTPLS AFSEKLSSDA
3210 3220 3230 3240 3250
VTQITTESPE KTLFSSEIFI NAEDRGHEII EPGNQKLRKA PVKFASSSSV
3260 3270 3280 3290 3300
QQVTFSRGTD GQPLLLPYKP SGSTKMYYVP QLRQIPPSPD SKSDTTVESS
3310 3320 3330 3340 3350
HSGSNDAIAP DFPAQVLGTR DDDLSATVNI KHKEGIYSKR VVTKASLPVG
3360 3370 3380 3390 3400
EKPLQNENAD ASVQVLITGD ENLSDKKQQE IHSTRAVTEA AQAKEKESLQ
3410 3420 3430 3440 3450
KDTADSSAAA AAEHSAQVGD PEMKNLPDTK AITQKEEIHR KKTVPEEAWP
3460 3470 3480 3490 3500
NNKESLQINI EESECHSEFE NTTRSVFRSA KFYIHHPVHL PSDQDICHES
3510 3520 3530 3540 3550
LGKSVFMRHS WKDFFQHHPD KHREHMCLPL PYQNMDKTKT DYTRIKSLSI
3560 3570 3580 3590 3600
NVNLGNKEVM DTTKSQVRDY PKHNGQISDP QRDQKVTPEQ TTQHTVSLNE
3610 3620 3630 3640 3650
LWNKYRERQR QQRQPELGDR KELSLVDRLD RLAKILQNPI THSLQVSEST
3660 3670 3680 3690 3700
HDDSRGERSV KEWSGRQQQR NKLQKKKRFK SLEKSHKNTG ELKKSKVLSH
3710 3720 3730 3740 3750
HRAGRSNQIK IEQIKFDKYI LSKQPGFNYI SNTSSDCRPS EESELLTDTT
3760 3770 3780 3790 3800
TNILSGTTST VESDILTQTD REVALHERSS SVSTIDTARL IQAFGHERVC
3810 3820 3830 3840 3850
LSPRRIKLYS SITNQQRRYL EKRSKHSKKV LNTGHPLVTS EHTRRRHIQV
3860 3870 3880 3890 3900
ANHVISSDSI SSSASSFLSS NSTFCNKQNV HMLNKGIQAG NLEIVNGAKK
3910 3920 3930 3940 3950
HTRDVGITFP TPSSSEAKLE ENSDVTSWSE EKREEKMLFT GYPEDRKLKK
3960 3970 3980 3990 4000
NKKNSHEGVS WFVPVENVES RSKKENVPNT CGPGISWFEP ITKTRPWREP
4010 4020 4030 4040 4050
LREQNCQGQH LDGRGYLAGP GREAGRDLLR PFVRATLQES LQFHRPDFIS
4060 4070 4080 4090 4100
RSGERIKRLK LIVQERKLQS MLQTERDALF NIDRERQGHQ NRMCPLPKRV
4110 4120 4130 4140 4150
FLAIQKNKPI SKKEMIQRSK RIYEQLPEVQ KKREEEKRKS EYKSYRLRAQ
4160
LYKKRVTNQL LGRKVPWD
Computationally mapped potential isoform sequencesi
There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WTU9 | A0A087WTU9_HUMAN | Alstrom syndrome protein 1 | ALMS1 | 4,126 | Annotation score: | ||
A0A494C0F1 | A0A494C0F1_HUMAN | Alstrom syndrome protein 1 | ALMS1 | 886 | Annotation score: | ||
A0A087WV20 | A0A087WV20_HUMAN | Alstrom syndrome protein 1 | ALMS1 | 3,859 | Annotation score: | ||
H7C1D9 | H7C1D9_HUMAN | Alstrom syndrome protein 1 | ALMS1 | 1,023 | Annotation score: | ||
A0A2R8Y7Z9 | A0A2R8Y7Z9_HUMAN | Alstrom syndrome protein 1 | ALMS1 | 50 | Annotation score: | ||
A0A494BZW1 | A0A494BZW1_HUMAN | Alstrom syndrome protein 1 | ALMS1 | 312 | Annotation score: | ||
A0A494C003 | A0A494C003_HUMAN | Alstrom syndrome protein 1 | ALMS1 | 428 | Annotation score: | ||
A0A494C1N9 | A0A494C1N9_HUMAN | Alstrom syndrome protein 1 | ALMS1 | 901 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 13 | E → EE in CAD10391 (PubMed:11941370).Curated | 1 | |
Sequence conflicti | 524 | S → SP in CAD10391 (PubMed:11941370).Curated | 1 | |
Sequence conflicti | 3417 | Q → L in AAH35025 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 3417 | Q → L in AAH50330 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 4030 | R → K in CAD10391 (PubMed:11941370).Curated | 1 | |
Sequence conflicti | 4030 | R → K in BAA20786 (PubMed:9205841).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080194 | 525 | Missing 2 PublicationsCorresponds to variant dbSNP:rs72540761Ensembl. | 1 | |
Natural variantiVAR_025433 | 672 | V → G1 PublicationCorresponds to variant dbSNP:rs2037814EnsemblClinVar. | 1 | |
Natural variantiVAR_056734 | 1413 | G → A. Corresponds to variant dbSNP:rs886038612Ensembl. | 1 | |
Natural variantiVAR_059575 | 1876 | I → V. Corresponds to variant dbSNP:rs6546838EnsemblClinVar. | 1 | |
Natural variantiVAR_025434 | 2112 | S → R1 PublicationCorresponds to variant dbSNP:rs6724782EnsemblClinVar. | 1 | |
Natural variantiVAR_059576 | 2285 | R → P. Corresponds to variant dbSNP:rs6546839EnsemblClinVar. | 1 | |
Natural variantiVAR_025435 | 2575 | S → N1 PublicationCorresponds to variant dbSNP:rs3820700EnsemblClinVar. | 1 | |
Natural variantiVAR_025436 | 2673 | D → H1 PublicationCorresponds to variant dbSNP:rs2017116EnsemblClinVar. | 1 | |
Natural variantiVAR_059577 | 2857 | N → S. Corresponds to variant dbSNP:rs10193972EnsemblClinVar. | 1 | |
Natural variantiVAR_059578 | 3435 | K → E. Corresponds to variant dbSNP:rs34071195Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017347 | 3851 – 3859 | ANHVISSDS → HGYRFHLAM in isoform 3. 1 Publication | 9 | |
Alternative sequenceiVSP_017348 | 3860 – 4167 | Missing in isoform 3. 1 PublicationAdd BLAST | 308 | |
Alternative sequenceiVSP_017349 | 4122 – 4167 | Missing in isoform 2. 1 PublicationAdd BLAST | 46 |
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. KF573641 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 |
Genome annotation databases
Ensembli | ENST00000613296; ENSP00000482968; ENSG00000116127 [Q8TCU4-1] |
GeneIDi | 7840 |
KEGGi | hsa:7840 |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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. KF573641 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 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 113598, 87 interactors |
IntActi | Q8TCU4, 50 interactors |
MINTi | Q8TCU4 |
STRINGi | 9606.ENSP00000482968 |
PTM databases
CarbonylDBi | Q8TCU4 |
iPTMneti | Q8TCU4 |
PhosphoSitePlusi | Q8TCU4 |
Genetic variation databases
BioMutai | ALMS1 |
DMDMi | 296439448 |
Proteomic databases
EPDi | Q8TCU4 |
jPOSTi | Q8TCU4 |
MassIVEi | Q8TCU4 |
MaxQBi | Q8TCU4 |
PaxDbi | Q8TCU4 |
PeptideAtlasi | Q8TCU4 |
PRIDEi | Q8TCU4 |
ProteomicsDBi | 74171 [Q8TCU4-1] 74172 [Q8TCU4-2] 74173 [Q8TCU4-3] |
Protocols and materials databases
Antibodypediai | 8144, 116 antibodies |
Genome annotation databases
Ensembli | ENST00000613296; ENSP00000482968; ENSG00000116127 [Q8TCU4-1] |
GeneIDi | 7840 |
KEGGi | hsa:7840 |
Organism-specific databases
CTDi | 7840 |
DisGeNETi | 7840 |
GeneCardsi | ALMS1 |
GeneReviewsi | ALMS1 |
HGNCi | HGNC:428, ALMS1 |
MalaCardsi | ALMS1 |
MIMi | 203800, phenotype 606844, gene |
neXtProti | NX_Q8TCU4 |
OpenTargetsi | ENSG00000116127 |
Orphaneti | 64, Alstroem syndrome |
PharmGKBi | PA24721 |
VEuPathDBi | HostDB:ENSG00000116127.17 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4613, Eukaryota |
GeneTreei | ENSGT00940000153123 |
InParanoidi | Q8TCU4 |
OMAi | HMLNKGV |
OrthoDBi | 9342at2759 |
PhylomeDBi | Q8TCU4 |
TreeFami | TF335596 |
Enzyme and pathway databases
PathwayCommonsi | Q8TCU4 |
Reactomei | R-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-380284, Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-380320, Recruitment of NuMA to mitotic centrosomes R-HSA-5620912, Anchoring of the basal body to the plasma membrane R-HSA-8854518, AURKA Activation by TPX2 |
Miscellaneous databases
BioGRID-ORCSi | 7840, 9 hits in 997 CRISPR screens |
ChiTaRSi | ALMS1, human |
GenomeRNAii | 7840 |
Pharosi | Q8TCU4, Tbio |
PROi | PR:Q8TCU4 |
RNActi | Q8TCU4, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000116127, Expressed in amniotic fluid and 237 other tissues |
ExpressionAtlasi | Q8TCU4, baseline and differential |
Family and domain databases
InterProi | View protein in InterPro IPR028781, ALMS1 IPR029299, ALMS_motif IPR040972, ALMS_repeat |
PANTHERi | PTHR21553:SF22, PTHR21553:SF22, 14 hits |
Pfami | View protein in Pfam PF15309, ALMS_motif, 1 hit PF18727, ALMS_repeat, 35 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ALMS1_HUMAN | |
Accessioni | Q8TCU4Primary (citable) accession number: Q8TCU4 Secondary accession number(s): A0A087WZY3 Q9Y4G4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | March 7, 2006 |
Last sequence update: | March 28, 2018 | |
Last modified: | April 7, 2021 | |
This is version 162 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 2
Human chromosome 2: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families