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ADAMTSL4 ADAMTS like 4 [ Homo sapiens (human) ]

Gene ID: 54507, updated on 7-Apr-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
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Genomic context

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Location:
1q21.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (150549408..150560937)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (149673436..149684971)
105.20220307 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
  • 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. Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships. Chen ZX, et al. Hum Mutat, 2022 Dec. PMID 36208099
  2. ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians. van Bysterveldt KA, et al. Ophthalmic Genet, 2017 Dec. PMID 28394649
  3. A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. Reinstein E, et al. Mol Genet Metab, 2016 Jan. PMID 26653794
  4. ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. Neuhann TM, et al. Am J Med Genet A, 2015 Oct. PMID 25975359
  5. 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

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.
    Title: Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Mutations in ADAMTSL4 appear to cause earlier manifestation of ectopia lentis and are associated with increased axial length.
    Title: A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Submit: New GeneRIF Correction See all GeneRIFs (16)

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

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)

Genotypes

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 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 extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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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