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Q8TCU4

- ALMS1_HUMAN

UniProt

Q8TCU4 - ALMS1_HUMAN

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Protein
Alstrom syndrome protein 1
Gene
ALMS1, KIAA0328
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in PCM1-dependent intracellular transport. Required, directly or indirectly, for the localization of NCAPD2 to the proximal ends of centrioles. Required for proper formation and/or maintenance of primary cilia (PC), microtubule-based structures that protrude from the surface of epithelial cells.3 Publications

GO - Molecular functioni

  1. protein binding Source: IntAct
Complete GO annotation...

GO - Biological processi

  1. G2/M transition of mitotic cell cycle Source: Reactome
  2. endosomal transport Source: MGI
  3. mitotic cell cycle Source: Reactome
  4. regulation of stress fiber assembly Source: MGI
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Names & Taxonomyi

Protein namesi
Recommended name:
Alstrom syndrome protein 1
Gene namesi
Name:ALMS1
Synonyms:KIAA0328
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:428. ALMS1.

Subcellular locationi

Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletoncilium basal body. Cytoplasmcytoskeletonspindle pole
Note: Associated with centrosomes and basal bodies at the base of primary cilia. Specifically locates to the proximal ends of centrioles and basal bodies. Colocalizes partially with NCAPD2 at these sites. During mitosis localizes to both spindle poles.3 Publications

GO - Cellular componenti

  1. centrosome Source: UniProtKB
  2. cilium Source: UniProtKB-KW
  3. cytoplasm Source: HPA
  4. cytosol Source: Reactome
  5. spindle pole Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Alstrom syndrome (ALMS) [MIM:203800]: A rare autosomal recessive disorder characterized by progressive cone-rod retinal dystrophy, neurosensory hearing loss, early childhood obesity and diabetes mellitus type 2. Dilated cardiomyopathy, acanthosis nigricans, male hypogonadism, hypothyroidism, developmental delay and hepatic dysfunction can also be associated with the syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

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

Organism-specific databases

MIMi203800. phenotype.
Orphaneti64. Alstrom syndrome.
PharmGKBiPA24721.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 41674167Alstrom syndrome protein 1
PRO_0000225592Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2631 – 26311Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ8TCU4.
PaxDbiQ8TCU4.
PRIDEiQ8TCU4.

PTM databases

PhosphoSiteiQ8TCU4.

Expressioni

Tissue specificityi

Expressed in all tissues tested including adipose and pancreas. Expressed by beta-cells of the islets in the pancreas (at protein level).2 Publications

Developmental stagei

Widely expressed in fetal tissues. Detected in fetal pancreas, skeletal muscle, liver, kidney and brain (at protein level). Expressed in fetal aorta and brain.2 Publications

Gene expression databases

ArrayExpressiQ8TCU4.
BgeeiQ8TCU4.
CleanExiHS_ALMS1.
GenevestigatoriQ8TCU4.

Organism-specific databases

HPAiHPA043200.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi113598. 8 interactions.
IntActiQ8TCU4. 6 interactions.
STRINGi9606.ENSP00000264448.

Structurei

3D structure databases

ProteinModelPortaliQ8TCU4.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati538 – 584471
Add
BLAST
Repeati585 – 631472
Add
BLAST
Repeati632 – 678473
Add
BLAST
Repeati679 – 725474
Add
BLAST
Repeati726 – 773485
Add
BLAST
Repeati774 – 820476
Add
BLAST
Repeati821 – 870507
Add
BLAST
Repeati871 – 917478
Add
BLAST
Repeati918 – 964479
Add
BLAST
Repeati965 – 10124810
Add
BLAST
Repeati1013 – 10594711
Add
BLAST
Repeati1060 – 11064712
Add
BLAST
Repeati1107 – 11544813
Add
BLAST
Repeati1155 – 12014714
Add
BLAST
Repeati1202 – 12484715
Add
BLAST
Repeati1249 – 12964816
Add
BLAST
Repeati1297 – 13434717
Add
BLAST
Repeati1344 – 13914818
Add
BLAST
Repeati1392 – 14384719
Add
BLAST
Repeati1439 – 14854720
Add
BLAST
Repeati1486 – 15334821
Add
BLAST
Repeati1534 – 15804722
Add
BLAST
Repeati1581 – 16274723
Add
BLAST
Repeati1628 – 16744724
Add
BLAST
Repeati1675 – 17214725
Add
BLAST
Repeati1722 – 17684726
Add
BLAST
Repeati1769 – 18154727
Add
BLAST
Repeati1816 – 18604528
Add
BLAST
Repeati1861 – 19054529
Add
BLAST
Repeati1906 – 19504530
Add
BLAST
Repeati1951 – 19984831
Add
BLAST
Repeati2059 – 21044632
Add
BLAST
Repeati2105 – 21514733
Add
BLAST
Repeati2152 – 21994834
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni538 – 2199166234 X 47 AA approximate tandem repeat
Add
BLAST
Regioni4035 – 4167133ALMS motif
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi2 – 7574Glu-rich
Add
BLAST

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG45093.
HOGENOMiHOG000089988.
HOVERGENiHBG080834.
InParanoidiQ8TCU4.
KOiK16741.
OMAiPSIFYQQ.
PhylomeDBi