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    ADAMTSL4 ADAMTS like 4 [ Homo sapiens (human) ]

    Gene ID: 54507, updated on 15-Jun-2019

    Summary

    Official Symbol
    ADAMTSL4provided by HGNC
    Official Full Name
    ADAMTS like 4provided by HGNC
    Primary source
    HGNC:HGNC:19706
    See related
    Ensembl:ENSG00000143382 MIM:610113
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TSRC1; ECTOL2; ADAMTSL-4
    Summary
    This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]
    Expression
    Biased expression in placenta (RPKM 57.7), lung (RPKM 14.8) and 11 other tissues See more
    Orthologs

    Genomic context

    See ADAMTSL4 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (150549369..150560937)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150521846..150533413)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene extracellular matrix protein 1 Neighboring gene focally amplified long non-coding RNA in epithelial cancer Neighboring gene uncharacterized LOC100289061 Neighboring gene microRNA 4257 Neighboring gene ADAMTSL4 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 473, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 600, pseudogene

    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?

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix organization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ADAMTS-like protein 4
    Names
    thrombospondin repeat-containing protein 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.

    Genomic

    1. NG_012172.1 RefSeqGene

      Range
      4948..16516
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001288607.2NP_001275536.1  ADAMTS-like protein 4 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses two alternate in-frame splice sites in the central coding region, compared to variant 4. The encoded isoform (3) is shorter, compared to isoform 4.
      Source sequence(s)
      AL122085, AL356356, AY358122, BC144581, CB960863, HY002139
      UniProtKB/Swiss-Prot
      Q6UY14
      UniProtKB/TrEMBL
      B7ZMJ3, Q9UFG7
      Conserved Domains (3) summary
      smart00209
      Location:938987
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:508618
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:9941023
      PLAC; PLAC (protease and lacunin) domain
    2. NM_001288608.1NP_001275537.1  ADAMTS-like protein 4 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001275537.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
      Source sequence(s)
      AL122085, AL356356, AY358122, BC140800, BC144581, CB960863, HY002139
      Consensus CDS
      CCDS72908.1
      UniProtKB/Swiss-Prot
      Q6UY14
      UniProtKB/TrEMBL
      B7ZMJ3, Q9UFG7
      Related
      ENSP00000358035.5, ENST00000369039.9
      Conserved Domains (3) summary
      smart00209
      Location:10001049
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:508622
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10561085
      PLAC; PLAC (protease and lacunin) domain
    3. NM_019032.5NP_061905.2  ADAMTS-like protein 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_061905.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon in the central coding region, compared to variant 4. The encoded isoform (1) is shorter, compared to isoform 4.
      Source sequence(s)
      AL122085, AL356356, AY358122, BC144581, CB960863, HY002139
      Consensus CDS
      CCDS955.1
      UniProtKB/Swiss-Prot
      Q6UY14
      UniProtKB/TrEMBL
      B7ZMJ3, Q9UFG7
      Related
      ENSP00000271643.4, ENST00000271643.8
      Conserved Domains (3) summary
      smart00209
      Location:9771026
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:485599
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10331062
      PLAC; PLAC (protease and lacunin) domain
    4. NM_025008.5NP_079284.2  ADAMTS-like protein 4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_079284.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons and its 3'-terminal exon extends past a splice site that is used in variant 4. The encoded isoform (2) is shorter and has a distinct C-terminus, compared to isoform 4.
      Source sequence(s)
      AL356356, AY358122, CB960863, CX164541, HY002139
      Consensus CDS
      CCDS30852.1
      UniProtKB/Swiss-Prot
      Q6UY14
      Related
      ENSP00000358037.5, ENST00000369041.9
      Conserved Domains (2) summary
      smart00209
      Location:786841
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:485599
      ADAM_spacer1; ADAM-TS Spacer 1

    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.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

      Range
      150549369..150560937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001506.2XP_016856995.1  ADAMTS-like protein 4 isoform X3

      UniProtKB/Swiss-Prot
      Q6UY14
      Conserved Domains (3) summary
      smart00209
      Location:10001049
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:508622
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10561085
      PLAC; PLAC (protease and lacunin) domain
    2. XM_011509648.3XP_011507950.1  ADAMTS-like protein 4 isoform X3

      See identical proteins and their annotated locations for XP_011507950.1

      UniProtKB/Swiss-Prot
      Q6UY14
      Conserved Domains (3) summary
      smart00209
      Location:10001049
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:508622
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10561085
      PLAC; PLAC (protease and lacunin) domain
    3. XM_011509649.3XP_011507951.1  ADAMTS-like protein 4 isoform X4

      Conserved Domains (2) summary
      smart00209
      Location:80110
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:541655
      ADAM_spacer1; ADAM-TS Spacer 1
    4. XM_011509650.3XP_011507952.1  ADAMTS-like protein 4 isoform X5

      Conserved Domains (2) summary
      smart00209
      Location:80110
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:541655
      ADAM_spacer1; ADAM-TS Spacer 1
    5. XM_011509644.3XP_011507946.1  ADAMTS-like protein 4 isoform X1

      Conserved Domains (3) summary
      smart00209
      Location:10331082
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:541655
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10891118
      PLAC; PLAC (protease and lacunin) domain
    6. XM_011509645.3XP_011507947.1  ADAMTS-like protein 4 isoform X2

      Conserved Domains (3) summary
      smart00209
      Location:10101059
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:518632
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:10661095
      PLAC; PLAC (protease and lacunin) domain
    7. XM_011509651.2XP_011507953.1  ADAMTS-like protein 4 isoform X6

      See identical proteins and their annotated locations for XP_011507953.1

      Conserved Domains (3) summary
      smart00209
      Location:536585
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:44158
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:592621
      PLAC; PLAC (protease and lacunin) domain
    8. XM_011509652.2XP_011507954.1  ADAMTS-like protein 4 isoform X6

      See identical proteins and their annotated locations for XP_011507954.1

      Conserved Domains (3) summary
      smart00209
      Location:536585
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:44158
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:592621
      PLAC; PLAC (protease and lacunin) domain
    9. XM_017001507.1XP_016856996.1  ADAMTS-like protein 4 isoform X7

    RNA

    1. XR_921844.3 RNA Sequence

    2. XR_001737242.2 RNA Sequence

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