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UniProtKB - Q8TCU4 (ALMS1_HUMAN)

Entry version 159 (12 Aug 2020)
Sequence version 4 (28 Mar 2018)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • microtubule binding Source: GO_Central
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8TCU4

Reactome - a knowledgebase of biological pathways and processes

More...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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Alstrom syndrome protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALMS1
Synonyms:KIAA0328
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000116127.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:428, ALMS1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606844, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8TCU4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		7840

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		ALMS1

MalaCards human disease database

More...MalaCardsi		ALMS1
MIMi203800, phenotype

Open Targets

More...OpenTargetsi		ENSG00000116127

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		64, Alstroem syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24721

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8TCU4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ALMS1

Domain mapping of disease mutations (DMDM)

More...DMDMi		296439448

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002255921 – 4168Alstrom syndrome protein 1Add BLAST4168

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei464PhosphoserineCombined sources1
Modified residuei1189PhosphoserineCombined sources1
Modified residuei2143PhosphoserineCombined sources1
Modified residuei2466PhosphoserineCombined sources1
Modified residuei2632PhosphoserineCombined sources1
Modified residuei2805PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8TCU4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8TCU4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8TCU4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8TCU4

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8TCU4

PeptideAtlas

More...PeptideAtlasi		Q8TCU4

PRoteomics IDEntifications database

More...PRIDEi		Q8TCU4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		74171 [Q8TCU4-1]
74172 [Q8TCU4-2]
74173 [Q8TCU4-3]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q8TCU4

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8TCU4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8TCU4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000116127, Expressed in amniotic fluid and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8TCU4, baseline and differential

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		113598, 62 interactors

Protein interaction database and analysis system

More...IntActi		Q8TCU4, 50 interactors

Molecular INTeraction database

More...MINTi		Q8TCU4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000482968

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8TCU4, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni539 – 220034 X 47 AA approximate tandem repeatAdd BLAST1662
Regioni4036 – 4167ALMS motifAdd BLAST132

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi2 – 75Glu-richAdd BLAST74

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4613, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153123

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8TCU4

KEGG Orthology (KO)

More...KOi		K16741

Identification of Orthologs from Complete Genome Data

More...OMAi		HMLNKGV

Database of Orthologous Groups

More...OrthoDBi		9342at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8TCU4

TreeFam database of animal gene trees

More...TreeFami		TF335596

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR028781, ALMS1
IPR029299, ALMS_motif
IPR040972, ALMS_repeat

The PANTHER Classification System

More...PANTHERi		PTHR21553:SF22, PTHR21553:SF22, 12 hits

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15309, ALMS_motif, 1 hit
PF18727, ALMS_repeat, 35 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This 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 <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WTU9A0A087WTU9_HUMAN
Alstrom syndrome protein 1
ALMS1
4,126Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A087WV20A0A087WV20_HUMAN
Alstrom syndrome protein 1
ALMS1
3,859Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C0F1A0A494C0F1_HUMAN
Alstrom syndrome protein 1
ALMS1
886Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1D9H7C1D9_HUMAN
Alstrom syndrome protein 1
ALMS1
1,023Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7Z9A0A2R8Y7Z9_HUMAN
Alstrom syndrome protein 1
ALMS1
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494BZW1A0A494BZW1_HUMAN
Alstrom syndrome protein 1
ALMS1
312Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C003A0A494C003_HUMAN
Alstrom syndrome protein 1
ALMS1
428Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A494C1N9A0A494C1N9_HUMAN
Alstrom syndrome protein 1
ALMS1
901Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_080194525Missing 2 PublicationsCorresponds to variant dbSNP:rs72540761Ensembl.1
Natural variantiVAR_025433672V → G1 PublicationCorresponds to variant dbSNP:rs2037814EnsemblClinVar.1
Natural variantiVAR_0567341413G → A. Corresponds to variant dbSNP:rs886038612Ensembl.1
Natural variantiVAR_0595751876I → V. Corresponds to variant dbSNP:rs6546838EnsemblClinVar.1
Natural variantiVAR_0254342112S → R1 PublicationCorresponds to variant dbSNP:rs6724782EnsemblClinVar.1
Natural variantiVAR_0595762285R → P. Corresponds to variant dbSNP:rs6546839EnsemblClinVar.1
Natural variantiVAR_0254352575S → N1 PublicationCorresponds to variant dbSNP:rs3820700EnsemblClinVar.1
Natural variantiVAR_0254362673D → H1 PublicationCorresponds to variant dbSNP:rs2017116EnsemblClinVar.1
Natural variantiVAR_0595772857N → S. Corresponds to variant dbSNP:rs10193972EnsemblClinVar.1
Natural variantiVAR_0595783435K → E. Corresponds to variant dbSNP:rs34071195Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

NCBI Reference Sequences

More...RefSeqi		NP_055935.4, NM_015120.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000613296; ENSP00000482968; ENSG00000116127 [Q8TCU4-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		7840

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:7840

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
RefSeqiNP_055935.4, NM_015120.4

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi113598, 62 interactors
IntActiQ8TCU4, 50 interactors
MINTiQ8TCU4
STRINGi9606.ENSP00000482968

PTM databases

CarbonylDBiQ8TCU4
iPTMnetiQ8TCU4
PhosphoSitePlusiQ8TCU4

Polymorphism and mutation databases

BioMutaiALMS1
DMDMi296439448

Proteomic databases

EPDiQ8TCU4
jPOSTiQ8TCU4
MassIVEiQ8TCU4
MaxQBiQ8TCU4
PaxDbiQ8TCU4
PeptideAtlasiQ8TCU4
PRIDEiQ8TCU4
ProteomicsDBi74171 [Q8TCU4-1]
74172 [Q8TCU4-2]
74173 [Q8TCU4-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		8144, 112 antibodies

Genome annotation databases

EnsembliENST00000613296; ENSP00000482968; ENSG00000116127 [Q8TCU4-1]
GeneIDi7840
KEGGihsa:7840

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		7840
DisGeNETi7840
EuPathDBiHostDB:ENSG00000116127.17

GeneCards: human genes, protein and diseases

More...GeneCardsi		ALMS1
GeneReviewsiALMS1
HGNCiHGNC:428, ALMS1
MalaCardsiALMS1
MIMi203800, phenotype
606844, gene
neXtProtiNX_Q8TCU4
OpenTargetsiENSG00000116127
Orphaneti64, Alstroem syndrome
PharmGKBiPA24721

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4613, Eukaryota
GeneTreeiENSGT00940000153123
InParanoidiQ8TCU4
KOiK16741
OMAiHMLNKGV
OrthoDBi9342at2759
PhylomeDBiQ8TCU4
TreeFamiTF335596

Enzyme and pathway databases

PathwayCommonsiQ8TCU4
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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		7840, 8 hits in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		ALMS1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		7840
PharosiQ8TCU4, Tbio

Protein Ontology

More...PROi		PR:Q8TCU4
RNActiQ8TCU4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000116127, Expressed in amniotic fluid and 237 other tissues
ExpressionAtlasiQ8TCU4, baseline and differential

Family and domain databases

InterProiView protein in InterPro
IPR028781, ALMS1
IPR029299, ALMS_motif
IPR040972, ALMS_repeat
PANTHERiPTHR21553:SF22, PTHR21553:SF22, 12 hits
PfamiView protein in Pfam
PF15309, ALMS_motif, 1 hit
PF18727, ALMS_repeat, 35 hits

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiALMS1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TCU4
Secondary accession number(s): A0A087WZY3
, Q53S05, Q580Q8, Q86VP9, Q9Y4G4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 28, 2018
Last modified: August 12, 2020
This is version 159 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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