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Entry version 152 (31 Jul 2019)
Sequence version 4 (28 Mar 2018)
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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

GO - Biological processi

Enzyme and pathway databases

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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Human Gene Nomenclature Database

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HGNCi
HGNC:428 ALMS1

Online Mendelian Inheritance in Man (OMIM)

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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

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OpenTargetsi
ENSG00000116127

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

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Orphaneti
64 Alstroem syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA24721

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALMS1

Domain mapping of disease mutations (DMDM)

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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.<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

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EPDi
Q8TCU4

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TCU4

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8TCU4

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

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PaxDbi
Q8TCU4

PeptideAtlas

More...
PeptideAtlasi
Q8TCU4

PRoteomics IDEntifications database

More...
PRIDEi
Q8TCU4

ProteomicsDB human proteome resource

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

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
Q8TCU4

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8TCU4

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

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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 227 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TCU4 baseline and differential

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043200

<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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113598, 55 interactors

Protein interaction database and analysis system

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IntActi
Q8TCU4, 33 interactors

Molecular INTeraction database

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MINTi
Q8TCU4

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000482968

<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
ENOG410IF7R Eukaryota
ENOG4111TD2 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153123

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000089988

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TCU4

KEGG Orthology (KO)

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KOi
K16741

Identification of Orthologs from Complete Genome Data

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OMAi
PGVFYQQ

Database of Orthologous Groups

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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

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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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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.

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

<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>
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>
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>
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>
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>
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>

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:rs2037814Ensembl.1
Natural variantiVAR_0567341413G → A. Corresponds to variant dbSNP:rs886038612Ensembl.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
<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, 55 interactors
IntActiQ8TCU4, 33 interactors
MINTiQ8TCU4
STRINGi9606.ENSP00000482968

PTM databases

CarbonylDBiQ8TCU4
iPTMnetiQ8TCU4
PhosphoSitePlusiQ8TCU4

Polymorphism and mutation databases

BioMutaiALMS1
DMDMi296439448

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7840
DisGeNETi7840

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ALMS1
GeneReviewsiALMS1
HGNCiHGNC:428 ALMS1
HPAiHPA043200
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

eggNOGiENOG410IF7R Eukaryota
ENOG4111TD2 LUCA
GeneTreeiENSGT00940000153123
HOGENOMiHOG000089988
InParanoidiQ8TCU4
KOiK16741
OMAiPGVFYQQ
OrthoDBi9342at2759
PhylomeDBiQ8TCU4
TreeFamiTF335596

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

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:Q8TCU4

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000116127 Expressed in 227 organ(s), highest expression level in amniotic fluid
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_and_isoforms">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: July 31, 2019
This is version 152 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

Complete proteome, Reference proteome

Documents

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