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Protein

Alstrom syndrome protein 1

Gene

ALMS1

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

  • ciliary basal body-plasma membrane docking Source: Reactome
  • endosomal transport Source: MGI
  • G2/M transition of mitotic cell cycle Source: Reactome
  • regulation of G2/M transition of mitotic cell cycle Source: Reactome
  • regulation of stress fiber assembly Source: MGI

Enzyme and pathway databases

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-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componentsi: Chromosome 2, Unplaced

Organism-specific databases

EuPathDBiHostDB:ENSG00000116127.17.
HGNCiHGNC:428. ALMS1.
MIMi606844. gene.
neXtProtiNX_Q8TCU4.

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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.
GeneReviewsiALMS1.
MalaCardsiALMS1.
MIMi203800. phenotype.
OpenTargetsiENSG00000116127.
Orphaneti64. Alstrom syndrome.
PharmGKBiPA24721.

Polymorphism and mutation databases

BioMutaiALMS1.
DMDMi296439448.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002255921 – 4168Alstrom syndrome protein 1Add BLAST4168

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei464PhosphoserineCombined sources1
Modified residuei1189PhosphoserineCombined sources1
Modified residuei2143PhosphoserineCombined sources1
Modified residuei2466PhosphoserineCombined sources1
Modified residuei2632PhosphoserineCombined sources1
Modified residuei2805PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8TCU4.
MaxQBiQ8TCU4.
PaxDbiQ8TCU4.
PeptideAtlasiQ8TCU4.
PRIDEiQ8TCU4.

PTM databases

CarbonylDBiQ8TCU4.
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.
ExpressionAtlasiA0A087WZY3. baseline and differential.

Organism-specific databases

HPAiHPA043200.

Interactioni

Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113598. 52 interactors.
CORUMiQ8TCU4.
IntActiQ8TCU4. 28 interactors.
STRINGi9606.ENSP00000264448.

Structurei

3D structure databases

ProteinModelPortaliQ8TCU4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati539 – 5851Add BLAST47
Repeati586 – 6322Add BLAST47
Repeati633 – 6793Add BLAST47
Repeati680 – 7264Add BLAST47
Repeati727 – 7745Add BLAST48
Repeati775 – 8216Add BLAST47
Repeati822 – 8717Add BLAST50
Repeati872 – 9188Add BLAST47
Repeati919 – 9659Add BLAST47
Repeati966 – 101310Add BLAST48
Repeati1014 – 106011Add BLAST47
Repeati1061 – 110712Add BLAST47
Repeati1108 – 115513Add BLAST48
Repeati1156 – 120214Add BLAST47
Repeati1203 – 124915Add BLAST47
Repeati1250 – 129716Add BLAST48
Repeati1298 – 134417Add BLAST47
Repeati1345 – 139218Add BLAST48
Repeati1393 – 143919Add BLAST47
Repeati1440 – 148620Add BLAST47
Repeati1487 – 153421Add BLAST48
Repeati1535 – 158122Add BLAST47
Repeati1582 – 162823Add BLAST47
Repeati1629 – 167524Add BLAST47
Repeati1676 – 172225Add BLAST47
Repeati1723 – 176926Add BLAST47
Repeati1770 – 181627Add BLAST47
Repeati1817 – 186128Add BLAST45
Repeati1862 – 190629Add BLAST45
Repeati1907 – 195130Add BLAST45
Repeati1952 – 199931Add BLAST48
Repeati2060 – 210532Add BLAST46
Repeati2106 – 215233Add BLAST47
Repeati2153 – 220034Add BLAST48

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni539 – 220034 X 47 AA approximate tandem repeatAdd BLAST1662
Regioni4036 – 4167ALMS motifAdd BLAST132

Compositional bias

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

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IF7R. Eukaryota.
ENOG4111TD2. LUCA.
GeneTreeiENSGT00900000141032.
HOGENOMiHOG000089988.
HOVERGENiHBG080834.
InParanoidiQ8TCU4.
KOiK16741.
OMAiKPSIFYQ.
OrthoDBiEOG091G01OC.
PhylomeDBiQ8TCU4.
TreeFamiTF335596.

Family and domain databases

InterProiView protein in InterPro
IPR028781. ALMS1.
IPR029299. ALMS_motif.
PANTHERiPTHR21553:SF22. PTHR21553:SF22. 14 hits.
PfamiView protein in Pfam
PF15309. ALMS_motif. 1 hit.

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 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
Length:4,168
Mass (Da):461,062
Last modified:March 28, 2018 - v4
Checksum:i4A0D55F656316277
GO
Isoform 2 (identifier: Q8TCU4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     4122-4167: Missing.

Note: No experimental confirmation available.
Show »
Length:4,122
Mass (Da):455,285
Checksum:i7C36CF793C7C8872
GO
Isoform 3 (identifier: Q8TCU4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3851-3859: ANHVISSDS → HGYRFHLAM
     3860-4167: Missing.

Show »
Length:3,860
Mass (Da):425,349
Checksum:i052E9446876C13B7
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 conflicti3417Q → L in AAH35025 (PubMed:15489334).Curated1
Sequence conflicti3417Q → L in AAH50330 (PubMed:15489334).Curated1
Sequence conflicti4030R → K in CAD10391 (PubMed:11941370).Curated1
Sequence conflicti4030R → K in BAA20786 (PubMed:9205841).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080194525Missing 2 PublicationsCorresponds to variant dbSNP:rs72540761Ensembl.1
Natural variantiVAR_025433672V → G1 PublicationCorresponds to variant dbSNP:rs2037814Ensembl.1
Natural variantiVAR_0567341413G → A. Corresponds to variant dbSNP:rs6546837Ensembl.1
Natural variantiVAR_0595751876I → V. Corresponds to variant dbSNP:rs6546838Ensembl.1
Natural variantiVAR_0254342112S → R1 PublicationCorresponds to variant dbSNP:rs6724782Ensembl.1
Natural variantiVAR_0595762285R → P. Corresponds to variant dbSNP:rs6546839Ensembl.1
Natural variantiVAR_0254352575S → N1 PublicationCorresponds to variant dbSNP:rs3820700Ensembl.1
Natural variantiVAR_0254362673D → H1 PublicationCorresponds to variant dbSNP:rs2017116Ensembl.1
Natural variantiVAR_0595772857N → S. Corresponds to variant dbSNP:rs10193972Ensembl.1
Natural variantiVAR_0595783435K → E. Corresponds to variant dbSNP:rs34071195Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0173473851 – 3859ANHVISSDS → HGYRFHLAM in isoform 3. 1 Publication9
Alternative sequenceiVSP_0173483860 – 4167Missing in isoform 3. 1 PublicationAdd BLAST308
Alternative sequenceiVSP_0173494122 – 4167Missing in isoform 2. 1 PublicationAdd BLAST46

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

Genome annotation databases

EnsembliENST00000264448; ENSP00000264448; ENSG00000116127.
GeneIDi7840.
KEGGihsa:7840.
UCSCiuc032nrd.1. human.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiALMS1_HUMAN
AccessioniPrimary (citable) accession number: Q8TCU4
Secondary accession number(s): A0A087WZY3
, Q53S05, Q580Q8, Q86VP9, Q9Y4G4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 28, 2018
Last modified: March 28, 2018
This is version 138 of the entry and version 4 of the sequence. See 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