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    ADAMTSL4 ADAMTS like 4 [ Homo sapiens (human) ]

    Gene ID: 54507, updated on 14-Nov-2024

    Summary

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    Official Symbol
    ADAMTSL4provided by HGNC
    Official Full Name
    ADAMTS like 4provided by HGNC
    Primary source
    HGNC:HGNC:19706
    See related
    Ensembl:ENSG00000143382 MIM:610113; AllianceGenome:HGNC:19706
    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
    mouse all
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    Genomic context

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    See ADAMTSL4 in Genome Data Viewer
    Location:
    1q21.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150549408..150560937)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149673436..149684971)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (150521884..150533413)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150482970-150483840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1300 Neighboring gene extracellular matrix protein 1 Neighboring gene focally amplified long non-coding RNA in epithelial cancer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150505206-150506196 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:150507812-150509011 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150515782-150516282 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:150516283-150516783 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8461 Neighboring gene ADAMTSL4 antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 6123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1302 Neighboring gene uncharacterized LOC124904417 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150523090-150523779 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:150524269-150525138 Neighboring gene microRNA 4257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1692 Neighboring gene ADAMTSL4 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150534269-150535120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150535121-150535974 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150539574-150540284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:150540285-150540996 Neighboring gene RNA, 7SL, cytoplasmic 473, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 600, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis. Zhou XM, et al. Acta Ophthalmol, 2015 Feb. PMID 24802351
    2. Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral ectopia lentis. Greene VB, et al. Ophthalmic Genet, 2010 Mar. PMID 20141359
    3. A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. Christensen AE, et al. Invest Ophthalmol Vis Sci, 2010 Dec. PMID 20702823
    4. A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. Neuhann TM, et al. Invest Ophthalmol Vis Sci, 2011 Feb 3. PMID 21051722
    5. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Ahram D, et al. Am J Hum Genet, 2009 Feb. PMID 19200529, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis.
      Title: Mutations in ADAMTSL4 cause a unique form of autosomal-recessive congenital ectopia lentis.
    2. Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.
      Title: Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.
    3. Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
      Title: Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
    4. A recurrent pathogenic ADAMTSL4 variant is a major cause of early onset autosomal recessive ectopia lentis in a Cook Island Maori population and associated with a common haplotype, suggesting a founder effect.
      Title: ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
    5. study reports a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral ectopia lentis
      Title: A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
    6. ADAMTSL4 mutations are the main cause for isolated ectopia lentis with an early onset of symptoms and possible severe ocular complications.
      Title: ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
    7. Compound heterozygous c.1783dupT and c. 2594G>A mutations of ADAMTSL4 gene were causative mutations for this family with isolated non-syndromic ectopia lentis
      Title: Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.
    8. We have confirmed the gene and protein expression of ADAMTSL4 in human ocular tissue. The pattern of expression may suggest further functions of this gene beyond those suggested by its causative role in isolated ectopia lentis.
      Title: Gene expression and protein distribution of ADAMTSL-4 in human iris, choroid and retina.
    9. This is the first detailed report of a possible genetic determinant of craniosynostosis with ectopia lentis.
      Title: Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4.
    10. Patients from a family with ectopia lentis et pupillae (ELP) in four generations have autosomal recessive ELP caused by novel mutations in ADAMTSL4.
      Title: Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Ectopia lentis 2, isolated, autosomal recessive
    MedGen: C3541474 OMIM: 225100 GeneReviews: ADAMTSL4-Related Eye Disorders
    		not available
    Ectopia lentis et pupillae
    MedGen: C1644196 OMIM: 225200 GeneReviews: ADAMTSL4-Related Eye Disorders
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in epithelial cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in pigment cell development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in interstitial matrix IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ADAMTS-like protein 4
    Names
    thrombospondin repeat-containing protein 1

    NCBI Reference Sequences (RefSeq)

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    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
      4987..16512
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AL122085, AL356356, AY358122, BC144581, CB960863, HY002139
      Consensus CDS
      CCDS91048.1
      UniProtKB/TrEMBL
      A0A669KBE7, B7ZMJ3
      Related
      ENSP00000501255.1, ENST00000674058.1
      Conserved Domains (3) summary
      smart00209
      Location:938 → 987
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:508 → 618
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:994 → 1023
      PLAC; PLAC (protease and lacunin) domain

    2. NM_001288608.2 → NP_001275537.1  ADAMTS-like protein 4 isoform 4 precursor

      See identical proteins and their annotated locations for NP_001275537.1

      Status: REVIEWED

      Source sequence(s)
      AL356356
      Consensus CDS
      CCDS72908.1
      UniProtKB/TrEMBL
      B7ZMJ3
      Related
      ENSP00000358035.5, ENST00000369039.9
      Conserved Domains (3) summary
      smart00209
      Location:1000 → 1049
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:508 → 622
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1056 → 1085
      PLAC; PLAC (protease and lacunin) domain

    3. NM_001378596.1 → NP_001365525.1  ADAMTS-like protein 4 isoform 1 precursor

      Status: REVIEWED

      Source sequence(s)
      AL356356
      Consensus CDS
      CCDS955.1
      UniProtKB/Swiss-Prot
      B2RTT0, F8WAD0, Q5T5F7, Q6IPM6, Q6UY14, Q8N643, Q9HBS6
      UniProtKB/TrEMBL
      B7ZMJ3
      Conserved Domains (5) summary
      smart00209
      Location:47 → 77
      TSP1; Thrombospondin type 1 repeats
      PHA03247
      Location:143 → 392
      PHA03247; large tegument protein UL36; Provisional
      pfam05986
      Location:485 → 599
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1033 → 1062
      PLAC; PLAC (protease and lacunin) domain
      pfam19030
      Location:727 → 783
      TSP1_ADAMTS; Thrombospondin type 1 domain

    4. NM_019032.6 → NP_061905.2  ADAMTS-like protein 4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_061905.2

      Status: REVIEWED

      Source sequence(s)
      AL356356
      Consensus CDS
      CCDS955.1
      UniProtKB/Swiss-Prot
      B2RTT0, F8WAD0, Q5T5F7, Q6IPM6, Q6UY14, Q8N643, Q9HBS6
      UniProtKB/TrEMBL
      B7ZMJ3
      Related
      ENSP00000271643.4, ENST00000271643.9
      Conserved Domains (5) summary
      smart00209
      Location:47 → 77
      TSP1; Thrombospondin type 1 repeats
      PHA03247
      Location:143 → 392
      PHA03247; large tegument protein UL36; Provisional
      pfam05986
      Location:485 → 599
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1033 → 1062
      PLAC; PLAC (protease and lacunin) domain
      pfam19030
      Location:727 → 783
      TSP1_ADAMTS; Thrombospondin type 1 domain

    5. NM_025008.5 → NP_079284.2  ADAMTS-like protein 4 isoform 2 precursor

      See identical proteins and their annotated locations for NP_079284.2

      Status: REVIEWED

      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:786 → 841
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:485 → 599
      ADAM_spacer1; ADAM-TS Spacer 1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      150549408..150560937
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422820.1 → XP_047278776.1  ADAMTS-like protein 4 isoform X3

    2. XM_047422830.1 → XP_047278786.1  ADAMTS-like protein 4 isoform X4

      UniProtKB/Swiss-Prot
      B2RTT0, F8WAD0, Q5T5F7, Q6IPM6, Q6UY14, Q8N643, Q9HBS6

    3. XM_017001506.3 → XP_016856995.1  ADAMTS-like protein 4 isoform X3

      UniProtKB/TrEMBL
      B7ZMJ3
      Conserved Domains (3) summary
      smart00209
      Location:1000 → 1049
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:508 → 622
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1056 → 1085
      PLAC; PLAC (protease and lacunin) domain

    4. XM_047422824.1 → XP_047278780.1  ADAMTS-like protein 4 isoform X3

    5. XM_047422823.1 → XP_047278779.1  ADAMTS-like protein 4 isoform X3

    6. XM_047422819.1 → XP_047278775.1  ADAMTS-like protein 4 isoform X2

    7. XM_011509648.4 → XP_011507950.1  ADAMTS-like protein 4 isoform X3

      See identical proteins and their annotated locations for XP_011507950.1

      UniProtKB/TrEMBL
      B7ZMJ3
      Conserved Domains (3) summary
      smart00209
      Location:1000 → 1049
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:508 → 622
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1056 → 1085
      PLAC; PLAC (protease and lacunin) domain

    8. XM_047422832.1 → XP_047278788.1  ADAMTS-like protein 4 isoform X4

      UniProtKB/Swiss-Prot
      B2RTT0, F8WAD0, Q5T5F7, Q6IPM6, Q6UY14, Q8N643, Q9HBS6
      Related
      ENSP00000358034.2, ENST00000369038.6

    9. XM_011509649.4 → XP_011507951.1  ADAMTS-like protein 4 isoform X5

      Conserved Domains (3) summary
      smart00209
      Location:80 → 110
      TSP1; Thrombospondin type 1 repeats
      PHA03247
      Location:176 → 425
      PHA03247; large tegument protein UL36; Provisional
      pfam05986
      Location:541 → 655
      ADAM_spacer1; ADAM-TS Spacer 1

    10. XM_011509650.4 → XP_011507952.1  ADAMTS-like protein 4 isoform X6

      Conserved Domains (2) summary
      smart00209
      Location:80 → 110
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:541 → 655
      ADAM_spacer1; ADAM-TS Spacer 1

    11. XM_047422841.1 → XP_047278797.1  ADAMTS-like protein 4 isoform X7

    12. XM_047422842.1 → XP_047278798.1  ADAMTS-like protein 4 isoform X8

    13. XM_011509644.4 → XP_011507946.1  ADAMTS-like protein 4 isoform X1

      UniProtKB/TrEMBL
      B7ZMJ3
      Conserved Domains (3) summary
      smart00209
      Location:1033 → 1082
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:541 → 655
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:1089 → 1118
      PLAC; PLAC (protease and lacunin) domain

    14. XM_011509651.3 → XP_011507953.1  ADAMTS-like protein 4 isoform X9

      See identical proteins and their annotated locations for XP_011507953.1

      Conserved Domains (3) summary
      smart00209
      Location:536 → 585
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:44 → 158
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:592 → 621
      PLAC; PLAC (protease and lacunin) domain

    15. XM_011509652.3 → XP_011507954.1  ADAMTS-like protein 4 isoform X9

      See identical proteins and their annotated locations for XP_011507954.1

      Conserved Domains (3) summary
      smart00209
      Location:536 → 585
      TSP1; Thrombospondin type 1 repeats
      pfam05986
      Location:44 → 158
      ADAM_spacer1; ADAM-TS Spacer 1
      pfam08686
      Location:592 → 621
      PLAC; PLAC (protease and lacunin) domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      149673436..149684971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337118.1 → XP_054193093.1  ADAMTS-like protein 4 isoform X3

    2. XM_054337123.1 → XP_054193098.1  ADAMTS-like protein 4 isoform X4

    3. XM_054337122.1 → XP_054193097.1  ADAMTS-like protein 4 isoform X3

    4. XM_054337121.1 → XP_054193096.1  ADAMTS-like protein 4 isoform X3

    5. XM_054337120.1 → XP_054193095.1  ADAMTS-like protein 4 isoform X3

    6. XM_054337117.1 → XP_054193092.1  ADAMTS-like protein 4 isoform X2

    7. XM_054337119.1 → XP_054193094.1  ADAMTS-like protein 4 isoform X3

    8. XM_054337124.1 → XP_054193099.1  ADAMTS-like protein 4 isoform X4

    9. XM_054337125.1 → XP_054193100.1  ADAMTS-like protein 4 isoform X5

    10. XM_054337126.1 → XP_054193101.1  ADAMTS-like protein 4 isoform X6

    11. XM_054337127.1 → XP_054193102.1  ADAMTS-like protein 4 isoform X7

    12. XM_054337128.1 → XP_054193103.1  ADAMTS-like protein 4 isoform X8

    13. XM_054337116.1 → XP_054193091.1  ADAMTS-like protein 4 isoform X1

    14. XM_054337129.1 → XP_054193104.1  ADAMTS-like protein 4 isoform X9

    15. XM_054337130.1 → XP_054193105.1  ADAMTS-like protein 4 isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UY14.2 GenPept UniProtKB/Swiss-Prot:Q6UY14

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