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Entry version 162 (02 Jun 2021)
Sequence version 4 (15 Jun 2010)
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Protein

ADAMTS-like protein 1

Gene

ADAMTSL1

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

Caution

Although strongly similar to members of the ADAMTS family it lacks the metalloprotease and disintegrin-like domains which are typical of that family.Curated

<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

<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>Keywordsi

Molecular functionHydrolase

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N6G6

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5083635, Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214, O-glycosylation of TSR domain-containing proteins

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8N6G6

<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:
ADAMTS-like protein 1
Short name:
ADAMTSL-1
Alternative name(s):
Punctin-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:ADAMTSL1
Synonyms:ADAMTSR1, C9orf94
ORF Names:UNQ528/PRO1071
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 9

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:14632, ADAMTSL1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609198, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6G6

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000178031.15

<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

Keywords - Cellular componenti

Extracellular matrix, Secreted

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi36W → A: Small reduction in secretion of ADAMTSL1. 1 Publication1
Mutagenesisi39W → A: Significant reduction in secretion of ADAMTSL1. 1 Publication1
Mutagenesisi39W → F: Abolishes secretion of ADAMTSL1. 1 Publication1
Mutagenesisi42W → A: Modest reduction in secretion of ADAMTSL1. 1 Publication1
Mutagenesisi42W → F: Abolishes secretion of ADAMTSL1. 1 Publication1
Mutagenesisi251N → Q: Abolishes N-glycosylation. Reduces secretion of ADAMTSL1. 1
Mutagenesisi312T → A: Small increase in secretion of ADAMTSL1. About 40% increase in secretion of ADAMTSL1; when associated with A-391. Dramatic increase in secretion of ADAMTSL1; when associated with A-391 and A-451. 1
Mutagenesisi385W → A: Significant reduction in secretion of ADAMTSL1. 1 Publication1
Mutagenesisi385W → F: No effect on secretion of ADAMTSL1. 1 Publication1
Mutagenesisi391S → A: Small increase in secretion of ADAMTSL1. About 40% increase in secretion of ADAMTSL1; when associated with A-312. Dramatic increase in secretion of ADAMTSL1; when associated with A-312 and A-451. 1
Mutagenesisi445W → A: Modest reduction in secretion of ADAMTSL1. 1 Publication1
Mutagenesisi451T → A: Small increase in secretion of ADAMTSL1. Dramatic increase in secretion of ADAMTSL1; when associated with A-312 and A-391. 1

Organism-specific databases

DisGeNET

More...
DisGeNETi
92949

MalaCards human disease database

More...
MalaCardsi
ADAMTSL1

Open Targets

More...
OpenTargetsi
ENSG00000178031

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

More...
Orphaneti
521445, Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA24554

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N6G6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ADAMTSL1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
298286924

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 28Add BLAST28
<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_000003586029 – 1762ADAMTS-like protein 1Add BLAST1734

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi39C-linked (Man) tryptophan1 Publication1
Glycosylationi42C-linked (Man) tryptophan1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi45 ↔ 76By similarity
Glycosylationi48O-linked (Fuc...) threonine1 Publication1
Disulfide bondi49 ↔ 81By similarity
Disulfide bondi60 ↔ 66By similarity
Glycosylationi251N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi312O-linked (Fuc...) threonine1 Publication1
Glycosylationi391O-linked (Fuc...) serine1 Publication1
Glycosylationi451O-linked (Fuc...) threonine1 Publication1
Disulfide bondi534 ↔ 578By similarity
Disulfide bondi538 ↔ 583By similarity
Disulfide bondi549 ↔ 567By similarity
Disulfide bondi678 ↔ 723By similarity
Disulfide bondi682 ↔ 728By similarity
Disulfide bondi693 ↔ 712By similarity
Disulfide bondi800 ↔ 844By similarity
Disulfide bondi804 ↔ 849By similarity
Disulfide bondi815 ↔ 832By similarity
Disulfide bondi899 ↔ 947By similarity
Disulfide bondi1202 ↔ 1250By similarity
Disulfide bondi1308 ↔ 1353By similarity
Disulfide bondi1418 ↔ 1469By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

C-, N- and O-glycosylated. O-fucosylated by POFUT2 on a serine or a threonine residue found within the consensus sequence C1-X2-(S/T)-C2-G of the TSP type-1 repeat domains where C1 and C2 are the first and second cysteine residue of the repeat, respectively. Fucosylated repeats can then be further glycosylated by the addition of a beta-1,3-glucose residue by the glucosyltransferase, B3GALTL. Fucosylation mediates the efficient secretion of ADAMTSL1. Also can be C-glycosylated with one or two mannose molecules on tryptophan residues within the consensus sequence W-X-X-W of the TPRs, and N-glycosylated. These other glycosylations can also facilitate secretion.3 Publications
Disulfide bonds are present.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei36Not glycosylated1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N6G6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8N6G6

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

More...
PaxDbi
Q8N6G6

PeptideAtlas

More...
PeptideAtlasi
Q8N6G6

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6G6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72170 [Q8N6G6-3]
72171 [Q8N6G6-1]
72172 [Q8N6G6-2]
72173 [Q8N6G6-4]
72174 [Q8N6G6-5]
72175 [Q8N6G6-6]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...
GlyGeni
Q8N6G6, 8 sites, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8N6G6

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

More...
PhosphoSitePlusi
Q8N6G6

<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 primarily in adult skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000178031, Expressed in layer of synovial tissue and 160 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8N6G6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6G6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000178031, Tissue enhanced (endometrium, retina)

<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 the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Monomer.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
124989, 7 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6G6, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000369921

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N6G6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

<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 <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini33 – 82TSP type-1 1PROSITE-ProRule annotationAdd BLAST50
Domaini376 – 424TSP type-1 2PROSITE-ProRule annotationAdd BLAST49
Domaini436 – 493TSP type-1 3PROSITE-ProRule annotationAdd BLAST58
Domaini522 – 584TSP type-1 4PROSITE-ProRule annotationAdd BLAST63
Domaini607 – 665TSP type-1 5PROSITE-ProRule annotationAdd BLAST59
Domaini666 – 729TSP type-1 6PROSITE-ProRule annotationAdd BLAST64
Domaini788 – 850TSP type-1 7PROSITE-ProRule annotationAdd BLAST63
Domaini861 – 963Ig-like C2-type 1Add BLAST103
Domaini1164 – 1266Ig-like C2-type 2Add BLAST103
Domaini1286 – 1369Ig-like C2-type 3Add BLAST84
Domaini1395 – 1485Ig-like C2-type 4Add BLAST91
Domaini1545 – 1608TSP type-1 8PROSITE-ProRule annotationAdd BLAST64
Domaini1666 – 1726TSP type-1 9PROSITE-ProRule annotationAdd BLAST61
Domaini1726 – 1762PLACPROSITE-ProRule annotationAdd BLAST37

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>Regioni1120 – 1164DisorderedSequence analysisAdd BLAST45

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi1123 – 1154Polar residuesSequence analysisAdd BLAST32

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3538, Eukaryota
KOG4597, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00940000156243

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_001717_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8N6G6

Identification of Orthologs from Complete Genome Data

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OMAi
WLLSEWT

Database of Orthologous Groups

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OrthoDBi
38261at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6G6

TreeFam database of animal gene trees

More...
TreeFami
TF351125

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
2.20.100.10, 11 hits
2.60.40.10, 4 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013273, ADAMTS/ADAMTS-like
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR013098, Ig_I-set
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR010909, PLAC
IPR000884, TSP1_rpt
IPR036383, TSP1_rpt_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07679, I-set, 2 hits
PF08686, PLAC, 1 hit
PF00090, TSP_1, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01857, ADAMTSFAMILY

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00409, IG, 4 hits
SM00408, IGc2, 4 hits
SM00209, TSP1, 13 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48726, SSF48726, 4 hits
SSF82895, SSF82895, 11 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50835, IG_LIKE, 4 hits
PS50900, PLAC, 1 hit
PS50092, TSP1, 9 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 (6+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 <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 6 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: Q8N6G6-3) [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
MECCRRATPG TLLLFLAFLL LSSRTARSEE DRDGLWDAWG PWSECSRTCG
60 70 80 90 100
GGASYSLRRC LSSKSCEGRN IRYRTCSNVD CPPEAGDFRA QQCSAHNDVK
110 120 130 140 150
HHGQFYEWLP VSNDPDNPCS LKCQAKGTTL VVELAPKVLD GTRCYTESLD
160 170 180 190 200
MCISGLCQIV GCDHQLGSTV KEDNCGVCNG DGSTCRLVRG QYKSQLSATK
210 220 230 240 250
SDDTVVAIPY GSRHIRLVLK GPDHLYLETK TLQGTKGENS LSSTGTFLVD
260 270 280 290 300
NSSVDFQKFP DKEILRMAGP LTADFIVKIR NSGSADSTVQ FIFYQPIIHR
310 320 330 340 350
WRETDFFPCS ATCGGGYQLT SAECYDLRSN RVVADQYCHY YPENIKPKPK
360 370 380 390 400
LQECNLDPCP ASDGYKQIMP YDLYHPLPRW EATPWTACSS SCGGGIQSRA
410 420 430 440 450
VSCVEEDIQG HVTSVEEWKC MYTPKMPIAQ PCNIFDCPKW LAQEWSPCTV
460 470 480 490 500
TCGQGLRYRV VLCIDHRGMH TGGCSPKTKP HIKEECIVPT PCYKPKEKLP
510 520 530 540 550
VEAKLPWFKQ AQELEEGAAV SEEPSFIPEA WSACTVTCGV GTQVRIVRCQ
560 570 580 590 600
VLLSFSQSVA DLPIDECEGP KPASQRACYA GPCSGEIPEF NPDETDGLFG
610 620 630 640 650
GLQDFDELYD WEYEGFTKCS ESCGGGVQEA VVSCLNKQTR EPAEENLCVT
660 670 680 690 700
SRRPPQLLKS CNLDPCPARW EIGKWSPCSL TCGVGLQTRD VFCSHLLSRE
710 720 730 740 750
MNETVILADE LCRQPKPSTV QACNRFNCPP AWYPAQWQPC SRTCGGGVQK
760 770 780 790 800
REVLCKQRMA DGSFLELPET FCSASKPACQ QACKKDDCPS EWLLSDWTEC
810 820 830 840 850
STSCGEGTQT RSAICRKMLK TGLSTVVNST LCPPLPFSSS IRPCMLATCA
860 870 880 890 900
RPGRPSTKHS PHIAAARKVY IQTRRQRKLH FVVGGFAYLL PKTAVVLRCP
910 920 930 940 950
ARRVRKPLIT WEKDGQHLIS STHVTVAPFG YLKIHRLKPS DAGVYTCSAG
960 970 980 990 1000
PAREHFVIKL IGGNRKLVAR PLSPRSEEEV LAGRKGGPKE ALQTHKHQNG
1010 1020 1030 1040 1050
IFSNGSKAEK RGLAANPGSR YDDLVSRLLE QGGWPGELLA SWEAQDSAER
1060 1070 1080 1090 1100
NTTSEEDPGA EQVLLHLPFT MVTEQRRLDD ILGNLSQQPE ELRDLYSKHL
1110 1120 1130 1140 1150
VAQLAQEIFR SHLEHQDTLL KPSERRTSPV TLSPHKHVSG FSSSLRTSST
1160 1170 1180 1190 1200
GDAGGGSRRP HRKPTILRKI SAAQQLSASE VVTHLGQTVA LASGTLSVLL
1210 1220 1230 1240 1250
HCEAIGHPRP TISWARNGEE VQFSDRILLQ PDDSLQILAP VEADVGFYTC
1260 1270 1280 1290 1300
NATNALGYDS VSIAVTLAGK PLVKTSRMTV INTEKPAVTV DIGSTIKTVQ
1310 1320 1330 1340 1350
GVNVTINCQV AGVPEAEVTW FRNKSKLGSP HHLHEGSLLL TNVSSSDQGL
1360 1370 1380 1390 1400
YSCRAANLHG ELTESTQLLI LDPPQVPTQL EDIRALLAAT GPNLPSVLTS
1410 1420 1430 1440 1450
PLGTQLVLDP GNSALLGCPI KGHPVPNITW FHGGQPIVTA TGLTHHILAA
1460 1470 1480 1490 1500
GQILQVANLS GGSQGEFSCL AQNEAGVLMQ KASLVIQDYW WSVDRLATCS
1510 1520 1530 1540 1550
ASCGNRGVQQ PRLRCLLNST EVNPAHCAGK VRPAVQPIAC NRRDCPSRWM
1560 1570 1580 1590 1600
VTSWSACTRS CGGGVQTRRV TCQKLKASGI STPVSNDMCT QVAKRPVDTQ
1610 1620 1630 1640 1650
ACNQQLCVEW AFSSWGQCNG PCIGPHLAVQ HRQVFCQTRD GITLPSEQCS
1660 1670 1680 1690 1700
ALPRPVSTQN CWSEACSVHW RVSLWTLCTA TCGNYGFQSR RVECVHARTN
1710 1720 1730 1740 1750
KAVPEHLCSW GPRPANWQRC NITPCENMEC RDTTRYCEKV KQLKLCQLSQ
1760
FKSRCCGTCG KA
Length:1,762
Mass (Da):193,409
Last modified:June 15, 2010 - 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:i2822C0A367C2EF4E
GO
Isoform 1 (identifier: Q8N6G6-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     526-1762: Missing.

Show »
Length:525
Mass (Da):58,416
Checksum:i4D797F7ECBD4FC51
GO
Isoform 2 (identifier: Q8N6G6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     362-378: Missing.
     448-456: CTVTCGQGL → VTVPSFFVH
     457-1762: Missing.

Show »
Length:439
Mass (Da):48,764
Checksum:iB7155590915B3F3D
GO
Isoform 4 (identifier: Q8N6G6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     670-683: WEIGKWSPCSLTCG → SSIDSAWNACNVLC
     684-1762: Missing.

Show »
Length:683
Mass (Da):75,523
Checksum:i49BFADA25E9EEBB5
GO
Isoform 5 (identifier: Q8N6G6-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1299: Missing.
     1300-1311: QGVNVTINCQVA → MSGVFCFFFFFL
     1549-1557: WMVTSWSAC → AMGLASGLT
     1558-1762: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:258
Mass (Da):27,468
Checksum:iD105728584BE2DE1
GO
Isoform 6 (identifier: Q8N6G6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1299: Missing.
     1300-1311: QGVNVTINCQVA → MSGVFCFFFFFL

Show »
Length:463
Mass (Da):50,568
Checksum:i044EA30A0BD28A00
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A2A343A2A343_HUMAN
ADAMTS-like protein 1
ADAMTSL1
275Annotation 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>
A6NIB9A6NIB9_HUMAN
ADAMTS-like protein 1
ADAMTSL1
219Annotation 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>
F8WEP3F8WEP3_HUMAN
ADAMTS-like protein 1
ADAMTSL1
185Annotation 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>
H7BYE3H7BYE3_HUMAN
ADAMTS-like protein 1
ADAMTSL1
150Annotation 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>
A0A7P0T9B9A0A7P0T9B9_HUMAN
ADAMTS-like protein 1
ADAMTSL1
1,810Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAI00789 differs from that shown. Reason: Frameshift.Curated
The sequence AAI00791 differs from that shown. Reason: Frameshift.Curated
The sequence AAK34948 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti54 – 55SY → AN in AAK84170 (PubMed:11805097).Curated2
Sequence conflicti208I → L in AAQ88693 (PubMed:12975309).Curated1
Sequence conflicti1409D → G in BAC03925 (PubMed:14702039).Curated1

<p>This subsection of the 'Sequence' section reports information derived from mass spectrometry experiments done on the entire protein or on biologically active derived peptide(s).<p><a href='/help/mass_spectrometry' target='_top'>More...</a></p>Mass spectrometryi

Molecular mass is 61935±595 Da. Determined by MALDI. The measured range is 28-525.1 Publication

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_017174242S → N. Corresponds to variant dbSNP:rs776755Ensembl.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_0393221 – 1299Missing in isoform 5 and isoform 6. 2 PublicationsAdd BLAST1299
Alternative sequenceiVSP_039323362 – 378Missing in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_039324448 – 456CTVTCGQGL → VTVPSFFVH in isoform 2. 1 Publication9
Alternative sequenceiVSP_039325457 – 1762Missing in isoform 2. 1 PublicationAdd BLAST1306
Alternative sequenceiVSP_039326526 – 1762Missing in isoform 1. 3 PublicationsAdd BLAST1237
Alternative sequenceiVSP_039327670 – 683WEIGK…SLTCG → SSIDSAWNACNVLC in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_039328684 – 1762Missing in isoform 4. 1 PublicationAdd BLAST1079
Alternative sequenceiVSP_0393291300 – 1311QGVNV…NCQVA → MSGVFCFFFFFL in isoform 5 and isoform 6. 2 PublicationsAdd BLAST12
Alternative sequenceiVSP_0393301549 – 1557WMVTSWSAC → AMGLASGLT in isoform 5. 1 Publication9
Alternative sequenceiVSP_0393311558 – 1762Missing in isoform 5. 1 PublicationAdd BLAST205

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
AF176313 mRNA Translation: AAK84170.1
AY358327 mRNA Translation: AAQ88693.1
AK092602 mRNA Translation: BAC03925.1
AK291956 mRNA Translation: BAF84645.1
AL158150 Genomic DNA No translation available.
AL353895 Genomic DNA No translation available.
AL442638 Genomic DNA No translation available.
AL449963 Genomic DNA No translation available.
AL591423 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58656.1
BC030262 mRNA Translation: AAH30262.1
BC100788 mRNA Translation: AAI00789.1 Frameshift.
BC100790 mRNA Translation: AAI00791.1 Frameshift.
AF251058 mRNA Translation: AAK34948.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS47954.1 [Q8N6G6-3]
CCDS6485.1 [Q8N6G6-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001035362.3, NM_001040272.5 [Q8N6G6-3]
NP_443098.3, NM_052866.4 [Q8N6G6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000276935; ENSP00000276935; ENSG00000178031 [Q8N6G6-4]
ENST00000327883; ENSP00000327887; ENSG00000178031 [Q8N6G6-1]
ENST00000380545; ENSP00000369918; ENSG00000178031 [Q8N6G6-6]
ENST00000380548; ENSP00000369921; ENSG00000178031 [Q8N6G6-3]
ENST00000380566; ENSP00000369940; ENSG00000178031 [Q8N6G6-2]
ENST00000542621; ENSP00000440472; ENSG00000178031 [Q8N6G6-5]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
92949

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:92949

UCSC genome browser

More...
UCSCi
uc003znb.4, human [Q8N6G6-3]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AF176313 mRNA Translation: AAK84170.1
AY358327 mRNA Translation: AAQ88693.1
AK092602 mRNA Translation: BAC03925.1
AK291956 mRNA Translation: BAF84645.1
AL158150 Genomic DNA No translation available.
AL353895 Genomic DNA No translation available.
AL442638 Genomic DNA No translation available.
AL449963 Genomic DNA No translation available.
AL591423 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58656.1
BC030262 mRNA Translation: AAH30262.1
BC100788 mRNA Translation: AAI00789.1 Frameshift.
BC100790 mRNA Translation: AAI00791.1 Frameshift.
AF251058 mRNA Translation: AAK34948.1 Different initiation.
CCDSiCCDS47954.1 [Q8N6G6-3]
CCDS6485.1 [Q8N6G6-1]
RefSeqiNP_001035362.3, NM_001040272.5 [Q8N6G6-3]
NP_443098.3, NM_052866.4 [Q8N6G6-1]

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

BioGRIDi124989, 7 interactors
IntActiQ8N6G6, 7 interactors
STRINGi9606.ENSP00000369921

PTM databases

GlyGeniQ8N6G6, 8 sites, 1 O-linked glycan (1 site)
iPTMnetiQ8N6G6
PhosphoSitePlusiQ8N6G6

Genetic variation databases

BioMutaiADAMTSL1
DMDMi298286924

Proteomic databases

jPOSTiQ8N6G6
MassIVEiQ8N6G6
PaxDbiQ8N6G6
PeptideAtlasiQ8N6G6
PRIDEiQ8N6G6
ProteomicsDBi72170 [Q8N6G6-3]
72171 [Q8N6G6-1]
72172 [Q8N6G6-2]
72173 [Q8N6G6-4]
72174 [Q8N6G6-5]
72175 [Q8N6G6-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
24655, 164 antibodies

The DNASU plasmid repository

More...
DNASUi
92949

Genome annotation databases

EnsembliENST00000276935; ENSP00000276935; ENSG00000178031 [Q8N6G6-4]
ENST00000327883; ENSP00000327887; ENSG00000178031 [Q8N6G6-1]
ENST00000380545; ENSP00000369918; ENSG00000178031 [Q8N6G6-6]
ENST00000380548; ENSP00000369921; ENSG00000178031 [Q8N6G6-3]
ENST00000380566; ENSP00000369940; ENSG00000178031 [Q8N6G6-2]
ENST00000542621; ENSP00000440472; ENSG00000178031 [Q8N6G6-5]
GeneIDi92949
KEGGihsa:92949
UCSCiuc003znb.4, human [Q8N6G6-3]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
92949
DisGeNETi92949

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ADAMTSL1
HGNCiHGNC:14632, ADAMTSL1
HPAiENSG00000178031, Tissue enhanced (endometrium, retina)
MalaCardsiADAMTSL1
MIMi609198, gene
neXtProtiNX_Q8N6G6
OpenTargetsiENSG00000178031
Orphaneti521445, Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
PharmGKBiPA24554
VEuPathDBiHostDB:ENSG00000178031.15

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3538, Eukaryota
KOG4597, Eukaryota
GeneTreeiENSGT00940000156243
HOGENOMiCLU_001717_1_0_1
InParanoidiQ8N6G6
OMAiWLLSEWT
OrthoDBi38261at2759
PhylomeDBiQ8N6G6
TreeFamiTF351125

Enzyme and pathway databases

PathwayCommonsiQ8N6G6
ReactomeiR-HSA-5083635, Defective B3GALTL causes Peters-plus syndrome (PpS)
R-HSA-5173214, O-glycosylation of TSR domain-containing proteins
SignaLinkiQ8N6G6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
92949, 8 hits in 986 CRISPR screens

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

More...
ChiTaRSi
ADAMTSL1, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
ADAMTSL1

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

More...
GenomeRNAii
92949
PharosiQ8N6G6, Tbio

Protein Ontology

More...
PROi
PR:Q8N6G6
RNActiQ8N6G6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000178031, Expressed in layer of synovial tissue and 160 other tissues
ExpressionAtlasiQ8N6G6, baseline and differential
GenevisibleiQ8N6G6, HS

Family and domain databases

Gene3Di2.20.100.10, 11 hits
2.60.40.10, 4 hits
InterProiView protein in InterPro
IPR013273, ADAMTS/ADAMTS-like
IPR007110, Ig-like_dom
IPR036179, Ig-like_dom_sf
IPR013783, Ig-like_fold
IPR013098, Ig_I-set
IPR003599, Ig_sub
IPR003598, Ig_sub2
IPR010909, PLAC
IPR000884, TSP1_rpt
IPR036383, TSP1_rpt_sf
PfamiView protein in Pfam
PF07679, I-set, 2 hits
PF08686, PLAC, 1 hit
PF00090, TSP_1, 1 hit
PRINTSiPR01857, ADAMTSFAMILY
SMARTiView protein in SMART
SM00409, IG, 4 hits
SM00408, IGc2, 4 hits
SM00209, TSP1, 13 hits
SUPFAMiSSF48726, SSF48726, 4 hits
SSF82895, SSF82895, 11 hits
PROSITEiView protein in PROSITE
PS50835, IG_LIKE, 4 hits
PS50900, PLAC, 1 hit
PS50092, TSP1, 9 hits

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 nameiATL1_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: Q8N6G6
Secondary accession number(s): A6PVN1
, A8K7E1, Q496M6, Q496M8, Q5T708, Q5VZT8, Q8NAI9, Q96RW4, Q9BXY3
<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: October 31, 2003
Last sequence update: June 15, 2010
Last modified: June 2, 2021
This is version 162 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

Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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