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ADAMTSL1 ADAMTS like 1 [ Homo sapiens (human) ]

Gene ID: 92949, updated on 22-Aug-2020

Summary

Official Symbol
ADAMTSL1provided by HGNC
Official Full Name
ADAMTS like 1provided by HGNC
Primary source
HGNC:HGNC:14632
See related
Ensembl:ENSG00000178031 MIM:609198
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
C9orf94; PUNCTIN; ADAMTSR1; ADAMTSL-1
Summary
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Expression
Broad expression in endometrium (RPKM 1.9), prostate (RPKM 1.7) and 23 other tissues See more
Orthologs

Genomic context

See ADAMTSL1 in Genome Data Viewer
Location:
9p22.2-p22.1
Exon count:
39
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (17906515..18910950)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (18474079..18910948)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987051 Neighboring gene poly(A) binding protein cytoplasmic 1 pseudogene 11 Neighboring gene SH3 domain containing GRB2 like 2, endophilin A1 Neighboring gene uncharacterized LOC105375987 Neighboring gene pseudouridylate synthase 7 pseudogene 1 Neighboring gene uncharacterized LOC107986990 Neighboring gene VISTA enhancer hs2537 Neighboring gene uncharacterized LOC105369293 Neighboring gene uncharacterized LOC102724102 Neighboring gene microRNA 3152 Neighboring gene RN7SK pseudogene 258 Neighboring gene RAP1B pseudogene 1 Neighboring gene uncharacterized LOC105375985 Neighboring gene stabilizer of axonemal microtubules 1 Neighboring gene proteasome 26S subunit, ATPase 3 pseudogene 1 Neighboring gene Ras related GTP binding A

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
GeneReviews: Not available
Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.
GeneReviews: Not available
Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
GeneReviews: Not available
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35283, FLJ41032, FLJ46891, MGC40193, MGC118803, MGC118805, DKFZp686L03130

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ADAMTS-like protein 1
Names
ADAM-TS related protein 1
punctin-1

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_001040272.6NP_001035362.3  ADAMTS-like protein 1 isoform 4 precursor

    See identical proteins and their annotated locations for NP_001035362.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) encodes the longer isoform (4).
    Source sequence(s)
    AF251058, AI750970, AL158150, AL591423, BC100790, BU626040, BX640951, CX758410, DA549329, DA598045
    Consensus CDS
    CCDS47954.1
    UniProtKB/Swiss-Prot
    Q8N6G6
    UniProtKB/TrEMBL
    Q6MZQ3
    Related
    ENSP00000369921.4, ENST00000380548.9
    Conserved Domains (7) summary
    smart00408
    Location:13001360
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:3682
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:12861370
    IG_like; Immunoglobulin like
    pfam07679
    Location:13951486
    I-set; Immunoglobulin I-set domain
    pfam08686
    Location:17301759
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:11971257
    Ig; Immunoglobulin domain
    cl15278
    Location:735788
    TSP_1; Thrombospondin type 1 domain
  2. NM_052866.5NP_443098.3  ADAMTS-like protein 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_443098.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has an alternate 3' exon, as compared to variant 4, resulting in immediate translation termination. Isoform 2 is truncated at the C-terminus, compared to isoform 4.
    Source sequence(s)
    AF251058, AY358327, CX758410, DA598045
    Consensus CDS
    CCDS6485.1
    UniProtKB/Swiss-Prot
    Q8N6G6
    Related
    ENSP00000327887.7, ENST00000327883.11
    Conserved Domains (2) summary
    smart00209
    Location:3682
    TSP1; Thrombospondin type 1 repeats
    pfam05986
    Location:205279
    ADAM_spacer1; ADAM-TS Spacer 1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    17906515..18910950
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518064.3XP_011516366.1  ADAMTS-like protein 1 isoform X3

    Conserved Domains (7) summary
    smart00408
    Location:13511411
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:87133
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13371421
    IG_like; Immunoglobulin like
    pfam07679
    Location:14461537
    I-set; Immunoglobulin I-set domain
    pfam08686
    Location:17811810
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:12481308
    Ig; Immunoglobulin domain
    cl15278
    Location:786839
    TSP_1; Thrombospondin type 1 domain
  2. XM_017015312.2XP_016870801.1  ADAMTS-like protein 1 isoform X5

  3. XM_011518063.2XP_011516365.1  ADAMTS-like protein 1 isoform X1

    Conserved Domains (7) summary
    smart00408
    Location:13661426
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:102148
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:13521436
    IG_like; Immunoglobulin like
    pfam07679
    Location:14611552
    I-set; Immunoglobulin I-set domain
    pfam00090
    Location:801854
    TSP_1; Thrombospondin type 1 domain
    pfam08686
    Location:17961825
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:12631323
    Ig; Immunoglobulin domain
  4. XM_017015311.1XP_016870800.1  ADAMTS-like protein 1 isoform X4

  5. XM_017015314.1XP_016870803.1  ADAMTS-like protein 1 isoform X7

  6. XM_017015310.1XP_016870799.1  ADAMTS-like protein 1 isoform X2

  7. XM_017015313.1XP_016870802.1  ADAMTS-like protein 1 isoform X6

    Conserved Domains (7) summary
    smart00408
    Location:11501210
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:14021457
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:11361220
    IG_like; Immunoglobulin like
    pfam07679
    Location:12451336
    I-set; Immunoglobulin I-set domain
    pfam00090
    Location:585638
    TSP_1; Thrombospondin type 1 domain
    pfam08686
    Location:15801609
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:10471107
    Ig; Immunoglobulin domain
  8. XM_011518067.1XP_011516369.1  ADAMTS-like protein 1 isoform X8

    Conserved Domains (7) summary
    smart00408
    Location:932992
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:11841239
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:9181002
    IG_like; Immunoglobulin like
    pfam07679
    Location:10271118
    I-set; Immunoglobulin I-set domain
    pfam08686
    Location:13621391
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:829889
    Ig; Immunoglobulin domain
    cl15278
    Location:367420
    TSP_1; Thrombospondin type 1 domain
  9. XM_011518070.2XP_011516372.1  ADAMTS-like protein 1 isoform X9

    See identical proteins and their annotated locations for XP_011516372.1

    Related
    ENST00000380559.7
    Conserved Domains (7) summary
    smart00408
    Location:832892
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:10841139
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:818902
    IG_like; Immunoglobulin like
    pfam07679
    Location:9271018
    I-set; Immunoglobulin I-set domain
    pfam00090
    Location:267320
    TSP_1; Thrombospondin type 1 domain
    pfam08686
    Location:12621291
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:729789
    Ig; Immunoglobulin domain
  10. XM_011518068.2XP_011516370.1  ADAMTS-like protein 1 isoform X9

    See identical proteins and their annotated locations for XP_011516370.1

    Conserved Domains (7) summary
    smart00408
    Location:832892
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:10841139
    TSP1; Thrombospondin type 1 repeats
    smart00410
    Location:818902
    IG_like; Immunoglobulin like
    pfam07679
    Location:9271018
    I-set; Immunoglobulin I-set domain
    pfam00090
    Location:267320
    TSP_1; Thrombospondin type 1 domain
    pfam08686
    Location:12621291
    PLAC; PLAC (protease and lacunin) domain
    cl11960
    Location:729789
    Ig; Immunoglobulin domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_139238.1: Suppressed sequence

    Description
    NM_139238.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
  2. NM_139264.1: Suppressed sequence

    Description
    NM_139264.1: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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