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ADAMTSL3 ADAMTS like 3 [ Homo sapiens (human) ]

Gene ID: 57188, updated on 13-Feb-2019

Summary

Official Symbol
ADAMTSL3provided by HGNC
Official Full Name
ADAMTS like 3provided by HGNC
Primary source
HGNC:HGNC:14633
See related
Ensembl:ENSG00000156218 MIM:609199
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADAMTSL-3
Expression
Broad expression in lung (RPKM 4.5), placenta (RPKM 4.0) and 24 other tissues See more
Orthologs

Genomic context

See ADAMTSL3 in Genome Data Viewer
Location:
15q25.2
Exon count:
35
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 15 NC_000015.10 (83654086..84039842)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (84322838..84708594)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370934 Neighboring gene SH3 domain containing GRB2 like 3, endophilin A3 Neighboring gene RNA, U6 small nuclear 401, pseudogene Neighboring gene tubulin alpha pseudogene 4 Neighboring gene RNA, U6 small nuclear 1339, pseudogene Neighboring gene uncharacterized LOC105370935 Neighboring gene stabilizer of axonemal microtubules 2 pseudogene Neighboring gene elongation factor like GTPase 1 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Genome-wide association analysis identifies 20 loci that influence adult height.
NHGRI GWA Catalog
Genome-wide association study of height and body mass index in Australian twin families.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Identification of ten loci associated with height highlights new biological pathways in human growth.
NHGRI GWA Catalog
Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
NHGRI GWA Catalog

Pathways from BioSystems

  • Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystem (from REACTOME)
    Defective B3GALTL causes Peters-plus syndrome (PpS), organism-specific biosystemHuman beta-1,3-glucosyltransferase like protein (B3GALTL, HGNC Approved Gene Symbol: B3GLCT; MIM:610308; CAZy family GT31), localised on the ER membrane, glucosylates O-fucosylated proteins. The resu...
  • Disease, organism-specific biosystem (from REACTOME)
    Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
  • Diseases associated with O-glycosylation of proteins, organism-specific biosystem (from REACTOME)
    Diseases associated with O-glycosylation of proteins, organism-specific biosystemGlycosylation is the most abundant modification of proteins, variations of which occur in all living cells. Glycosylation can be further categorized into N-linked (where the oligosaccharide is conjug...
  • Diseases of glycosylation, organism-specific biosystem (from REACTOME)
    Diseases of glycosylation, organism-specific biosystemDiseases of glycosylation, usually referred to as congenital disorders of glycosylation (CDG), are rare inherited disorders ascribing defects of nucleotide-sugar biosynthesis and transport, glycosylt...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • O-glycosylation of TSR domain-containing proteins, organism-specific biosystem (from REACTOME)
    O-glycosylation of TSR domain-containing proteins, organism-specific biosystemThe O-fucosylation of proteins containing thrombospondin type 1 repeat (TSR) domains is an important PTM, regulating many biological processes such as Notch signalling, inflammation, wound healing, a...
  • O-linked glycosylation, organism-specific biosystem (from REACTOME)
    O-linked glycosylation, organism-specific biosystemO-glycosylation is an important post-translational modification (PTM) required for correct functioning of many proteins (Van den Steen et al. 1998, Moremen et al. 2012). The O-glycosylation of protei...
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1233, MGC150716, MGC150717

Gene Ontology Provided by GOA

Function Evidence Code Pubs
peptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ADAMTS-like protein 3
Names
a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like 3
punctin-2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001301110.1NP_001288039.1  ADAMTS-like protein 3 isoform b precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses two alternate splice sites that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC027807, AC116157, AF237652, AW029535, BC128390
    Consensus CDS
    CCDS73773.1
    UniProtKB/Swiss-Prot
    P82987
    Related
    ENSP00000456313.1, ENST00000567476.1
    Conserved Domains (6) summary
    cd00096
    Location:12111275
    Ig; Immunoglobulin domain
    smart00408
    Location:13141374
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:78124
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13091383
    IG_like; Immunoglobulin like
    cl11960
    Location:929993
    Ig; Immunoglobulin domain
    cl15278
    Location:14891544
    TSP_1; Thrombospondin type 1 domain
  2. NM_207517.3NP_997400.2  ADAMTS-like protein 3 isoform a precursor

    See identical proteins and their annotated locations for NP_997400.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC027807, AC116157, AF237652, BC128389
    Consensus CDS
    CCDS10326.1
    UniProtKB/Swiss-Prot
    P82987
    Related
    ENSP00000286744.5, ENST00000286744.9
    Conserved Domains (7) summary
    cd00096
    Location:12111275
    Ig; Immunoglobulin domain
    smart00408
    Location:13141374
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:78124
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13091383
    IG_like; Immunoglobulin like
    pfam08686
    Location:16591689
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:929993
    Ig; Immunoglobulin domain
    cl15278
    Location:14891544
    TSP_1; Thrombospondin type 1 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

    Range
    83654086..84039842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521823.2XP_011520125.1  ADAMTS-like protein 3 isoform X3

    Conserved Domains (6) summary
    cd00096
    Location:12381302
    Ig; Immunoglobulin domain
    smart00408
    Location:13411401
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:78124
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13361410
    IG_like; Immunoglobulin like
    cl11960
    Location:9561020
    Ig; Immunoglobulin domain
    cl15278
    Location:15161571
    TSP_1; Thrombospondin type 1 domain
  2. XM_017022434.1XP_016877923.1  ADAMTS-like protein 3 isoform X2

    Conserved Domains (6) summary
    cd00096
    Location:12381302
    Ig; Immunoglobulin domain
    smart00408
    Location:13411401
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:78124
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13361410
    IG_like; Immunoglobulin like
    cl11960
    Location:9561020
    Ig; Immunoglobulin domain
    cl15278
    Location:15161571
    TSP_1; Thrombospondin type 1 domain
  3. XM_011521822.2XP_011520124.1  ADAMTS-like protein 3 isoform X1

    Conserved Domains (7) summary
    cd00096
    Location:12381302
    Ig; Immunoglobulin domain
    smart00408
    Location:13411401
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:78124
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13361410
    IG_like; Immunoglobulin like
    pfam08686
    Location:16861716
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:9561020
    Ig; Immunoglobulin domain
    cl15278
    Location:15161571
    TSP_1; Thrombospondin type 1 domain
  4. XM_011521824.2XP_011520126.1  ADAMTS-like protein 3 isoform X4

    Conserved Domains (6) summary
    cd00096
    Location:12381302
    Ig; Immunoglobulin domain
    smart00408
    Location:13411401
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:78124
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13361410
    IG_like; Immunoglobulin like
    cl11960
    Location:9561020
    Ig; Immunoglobulin domain
    cl15278
    Location:15161571
    TSP_1; Thrombospondin type 1 domain
  5. XM_011521825.2XP_011520127.1  ADAMTS-like protein 3 isoform X6

    Conserved Domains (5) summary
    cd00096
    Location:12381302
    Ig; Immunoglobulin domain
    smart00408
    Location:13411401
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:78124
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13361410
    IG_like; Immunoglobulin like
    cl11960
    Location:9561020
    Ig; Immunoglobulin domain
  6. XM_024450000.1XP_024305768.1  ADAMTS-like protein 3 isoform X7

    Conserved Domains (1) summary
    smart00209
    Location:78124
    TSP1; Thrombospondin type 1 repeats
  7. XM_017022435.1XP_016877924.1  ADAMTS-like protein 3 isoform X5

RNA

  1. XR_931873.2 RNA Sequence

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