Q8TCU4 (ALMS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Alstrom syndrome protein 1

Gene names

Name:	ALMS1
Synonyms:	KIAA0328

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	4167 AA.
Sequence status	Complete.
Protein existence	Evidence 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. Cytoplasm › cytoskeleton › centrosome. Cytoplasm › cytoskeleton › cilium basal body. Cytoplasm › cytoskeleton › 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. 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.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Cone-rod dystrophy Deafness Diabetes mellitus Obesity
Domain	Repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	G2/M transition of mitotic cell cycle Traceable author statement. Source: Reactome apoptotic process Inferred from electronic annotation. Source: Compara calcium-mediated signaling Inferred from electronic annotation. Source: Compara cholesterol homeostasis Inferred from electronic annotation. Source: Compara cilium assembly Inferred from electronic annotation. Source: Compara developmental growth Inferred from electronic annotation. Source: Compara endosomal transport Inferred from mutant phenotype PubMed 22693585. Source: MGI epithelial cell proliferation Inferred from electronic annotation. Source: Compara establishment of planar polarity Inferred from electronic annotation. Source: Compara fat cell differentiation Inferred from electronic annotation. Source: Compara glucose homeostasis Inferred from electronic annotation. Source: Compara inner ear receptor stereocilium organization Inferred from electronic annotation. Source: Compara negative regulation of multicellular organism growth Inferred from electronic annotation. Source: Compara ovulation Inferred from electronic annotation. Source: Compara regulation of fat cell differentiation Inferred from electronic annotation. Source: Compara regulation of stress fiber assembly Inferred from mutant phenotype PubMed 22693585. Source: MGI retinal rod cell development Inferred from electronic annotation. Source: Compara sensory perception of sound Inferred from electronic annotation. Source: Compara spermatid development Inferred from electronic annotation. Source: Compara triglyceride metabolic process Inferred from electronic annotation. Source: Compara
Cellular_component	centrosome Inferred from direct assay PubMed 21399614. Source: UniProtKB cilium Inferred from electronic annotation. Source: UniProtKB-KW cytosol Traceable author statement. Source: Reactome microtubule basal body Inferred from electronic annotation. Source: UniProtKB-SubCell spindle pole Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
DYSF	O75923	3	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 4167	4167	Alstrom syndrome protein 1		PRO_0000225592
Regions
	Repeat	538 – 584	47	1
	Repeat	585 – 631	47	2
	Repeat	632 – 678	47	3
	Repeat	679 – 725	47	4
	Repeat	726 – 773	48	5
	Repeat	774 – 820	47	6
	Repeat	821 – 870	50	7
	Repeat	871 – 917	47	8
	Repeat	918 – 964	47	9
	Repeat	965 – 1012	48	10
	Repeat	1013 – 1059	47	11
	Repeat	1060 – 1106	47	12
	Repeat	1107 – 1154	48	13
	Repeat	1155 – 1201	47	14
	Repeat	1202 – 1248	47	15
	Repeat	1249 – 1296	48	16
	Repeat	1297 – 1343	47	17
	Repeat	1344 – 1391	48	18
	Repeat	1392 – 1438	47	19
	Repeat	1439 – 1485	47	20
	Repeat	1486 – 1533	48	21
	Repeat	1534 – 1580	47	22
	Repeat	1581 – 1627	47	23
	Repeat	1628 – 1674	47	24
	Repeat	1675 – 1721	47	25
	Repeat	1722 – 1768	47	26
	Repeat	1769 – 1815	47	27
	Repeat	1816 – 1860	45	28
	Repeat	1861 – 1905	45	29
	Repeat	1906 – 1950	45	30
	Repeat	1951 – 1998	48	31
	Repeat	2059 – 2104	46	32
	Repeat	2105 – 2151	47	33
	Repeat	2152 – 2199	48	34
	Region	538 – 2199	1662	34 X 47 AA approximate tandem repeat
	Region	4035 – 4167	133	ALMS motif
	Compositional bias	2 – 75	74	Glu-rich
Amino acid modifications
	Modified residue	2631	1	Phosphoserine Ref.12
	Modified residue	3406	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	3850 – 3858	9	ANHVISSDS → HGYRFHLAM in isoform 3.		VSP_017347
	Alternative sequence	3859 – 4167	309	Missing in isoform 3.		VSP_017348
	Alternative sequence	4121 – 4167	47	Missing in isoform 2.		VSP_017349
	Natural variant	671	1	V → G. Ref.1 Corresponds to variant rs2037814 [ dbSNP | Ensembl ].		VAR_025433
	Natural variant	1412	1	G → A. Corresponds to variant rs6546837 [ dbSNP | Ensembl ].		VAR_056734
	Natural variant	1875	1	I → V. Corresponds to variant rs6546838 [ dbSNP | Ensembl ].		VAR_059575
	Natural variant	2111	1	S → R. Ref.1 Corresponds to variant rs6724782 [ dbSNP | Ensembl ].		VAR_025434
	Natural variant	2284	1	R → P. Corresponds to variant rs6546839 [ dbSNP | Ensembl ].		VAR_059576
	Natural variant	2574	1	S → N. Ref.5 Corresponds to variant rs3820700 [ dbSNP | Ensembl ].		VAR_025435
	Natural variant	2672	1	D → H. Ref.5 Corresponds to variant rs2017116 [ dbSNP | Ensembl ].		VAR_025436
	Natural variant	2856	1	N → S. Corresponds to variant rs10193972 [ dbSNP | Ensembl ].		VAR_059577
	Natural variant	3434	1	K → E. Corresponds to variant rs34071195 [ dbSNP | Ensembl ].		VAR_059578
Experimental info
	Sequence conflict	13	1	E → EE in CAD10391. Ref.1
	Sequence conflict	524	1	S → SP in CAD10391. Ref.1
	Sequence conflict	3416	1	Q → L in AAH35025. Ref.5
	Sequence conflict	3416	1	Q → L in AAH50330. Ref.5
	Sequence conflict	4029	1	R → K in CAD10391. Ref.1
	Sequence conflict	4029	1	R → K in BAA20786. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 62184D40C6CF5019	FASTA	4,167	460,965
	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
	Isoform 2 [UniParc]. Checksum: CCA51709F850E380	FASTA	4,120	455,073
	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 IDRERQGHQN RMCPLPKRVF LAIQKNKPIS KKEMIQRSKR
	Isoform 3 [UniParc]. Checksum: 00DA5BFFE7914F8B	FASTA	3,858	425,137
	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 HTRRRHIQVH GYRFHLAM

References

	« Hide 'large scale' referencesShow '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. , 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: MASS SPECTROMETRY, 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, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
+	Additional computationally mapped references.

Web resources

GeneReviews

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.
IPI	IPI00178743. IPI00740123. IPI00740909.
RefSeq	NP_055935.4. NM_015120.4.
UniGene	Hs.184720.
3D structure databases
ProteinModelPortal	Q8TCU4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TCU4. 3 interactions.
STRING	9606.ENSP00000264448.
PTM databases
PhosphoSite	Q8TCU4.
Polymorphism databases
DMDM	296439448.
Proteomic databases
PaxDb	Q8TCU4.
PRIDE	Q8TCU4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000264448; ENSP00000264448; ENSG00000116127.
GeneID	7840.
KEGG	hsa:7840.
UCSC	uc002sje.1. human. uc002sjg.3. human.
Organism-specific databases
CTD	7840.
GeneCards	GC02P073612.
H-InvDB	HIX0002163.
HGNC	HGNC:428. ALMS1.
HPA	HPA043200.
MIM	203800. phenotype. 606844. gene.
neXtProt	NX_Q8TCU4.
Orphanet	64. Alstrom syndrome. 65. Leber congenital amaurosis.
PharmGKB	PA24721.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45093.
HOGENOM	HOG000089988.
HOVERGEN	HBG080834.
InParanoid	Q8TCU4.
KO	K16741.
OMA	PSIFYQQ.
PhylomeDB	Q8TCU4.
Enzyme and pathway databases
Reactome	REACT_115566. Cell Cycle.
Gene expression databases
ArrayExpress	Q8TCU4.
Bgee	Q8TCU4.
CleanEx	HS_ALMS1.
Genevestigator	Q8TCU4.
GermOnline	ENSG00000116127. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
ChiTaRS	ALMS1. human.
GenomeRNAi	7840.
NextBio	30245.
SOURCE	Search...

Entry information

Entry name

ALMS1_HUMAN

Accession

Primary (citable) accession number: Q8TCU4
Secondary accession number(s): Q53S05 , Q580Q8, Q86VP9, Q9Y4G4

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 7, 2006
Last sequence update:	May 18, 2010
Last modified:	May 1, 2013
This is version 91 of the entry and version 3 of the sequence. [Complete history]

Entry status

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.