Seroatlas · Human Serome Atlas

ADAMTSL4

ADAMTS-like protein 4

Also known as: ATL4_HUMAN, DKFZP434K1772, TSRC1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6UY14
Gene: ADAMTSL4
Ensembl: ENSG00000143382
Chromosome: 1
Canonical length: 1074 aa
Protein class: Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location: Plasma membrane,Cytosol
Secretome location: Secreted to extracellular matrix

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1074 residues, UniProt reviewed canonical sequence.

>Q6UY14|ADAMTSL4
     1  MENWTGRPWL YLLLLLSLPQ LCLDQEVLSG HSLQTPTEEG QGPEGVWGPW VQWASCSQPC
    61  GVGVQRRSRT CQLPTVQLHP SLPLPPRPPR HPEALLPRGQ GPRPQTSPET LPLYRTQSRG
   121  RGGPLRGPAS HLGREETQEI RAARRSRLRD PIKPGMFGYG RVPFALPLHR NRRHPRSPPR
   181  SELSLISSRG EEAIPSPTPR AEPFSANGSP QTELPPTELS VHTPSPQAEP LSPETAQTEV
   241  APRTRPAPLR HHPRAQASGT EPPSPTHSLG EGGFFRASPQ PRRPSSQGWA SPQVAGRRPD
   301  PFPSVPRGRG QQGQGPWGTG GTPHGPRLEP DPQHPGAWLP LLSNGPHASS LWSLFAPSSP
   361  IPRCSGESEQ LRACSQAPCP PEQPDPRALQ CAAFNSQEFM GQLYQWEPFT EVQGSQRCEL
   421  NCRPRGFRFY VRHTEKVQDG TLCQPGAPDI CVAGRCLSPG CDGILGSGRR PDGCGVCGGD
   481  DSTCRLVSGN LTDRGGPLGY QKILWIPAGA LRLQIAQLRP SSNYLALRGP GGRSIINGNW
   541  AVDPPGSYRA GGTVFRYNRP PREEGKGESL SAEGPTTQPV DVYMIFQEEN PGVFYQYVIS
   601  SPPPILENPT PEPPVPQLQP EILRVEPPLA PAPRPARTPG TLQRQVRIPQ MPAPPHPRTP
   661  LGSPAAYWKR VGHSACSASC GKGVWRPIFL CISRESGEEL DERSCAAGAR PPASPEPCHG
   721  TPCPPYWEAG EWTSCSRSCG PGTQHRQLQC RQEFGGGGSS VPPERCGHLP RPNITQSCQL
   781  RLCGHWEVGS PWSQCSVRCG RGQRSRQVRC VGNNGDEVSE QECASGPPQP PSREACDMGP
   841  CTTAWFHSDW SSKCSAECGT GIQRRSVVCL GSGAALGPGQ GEAGAGTGQS CPTGSRPPDM
   901  RACSLGPCER TWRWYTGPWG ECSSECGSGT QRRDIICVSK LGTEFNVTSP SNCSHLPRPP
   961  ALQPCQGQAC QDRWFSTPWS PCSRSCQGGT QTREVQCLST NQTLSTRCPP QLRPSRKRPC
  1021  NSQPCSQRPD DQCKDSSPHC PLVVQARLCV YPYYTATCCR SCAHVLERSP QDPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADAMTSL4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 59 nTPM

Expression across tissuesHPA

Tissue

placenta: 59 nTPM
tongue: 45 nTPM
skeletal muscle: 35 nTPM
urinary bladder: 34 nTPM
esophagus: 32 nTPM
adipose tissue: 31 nTPM

Single-cell type

epicardial cells: 346 nCPM
esophageal apical cells: 199 nCPM
cytotrophoblasts: 175 nCPM
migrating cytotrophoblasts: 119 nCPM
syncytiotrophoblasts: 105 nCPM
myonuclei: 86 nCPM

Immune cell

non-classical monocyte: 1.3 nTPM
neutrophil: 0.7 nTPM
classical monocyte: 0.5 nTPM
intermediate monocyte: 0.5 nTPM
total PBMC: 0.3 nTPM
myeloid DC: 0.1 nTPM

Brain region

cerebral cortex: 29 nTPM
choroid plexus: 21 nTPM
medulla oblongata: 14 nTPM
thalamus: 12 nTPM
pons: 10 nTPM
midbrain: 9.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADAMTSL4.

Disease | AllUniProt

Conditions ADAMTSL4 is implicated in, by any mechanism.

Ectopia lentis 2, isolated, autosomal recessive (ECTOL2) MIM:225100
Ectopia lentis et pupillae (ECTOLP) MIM:225200

Disease | GeneticClinVar

166 pathogenic / likely-pathogenic of 1,450 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Ectopia lentis 2, isolated, autosomal recessive
Ectopia lentis et pupillae
ADAMTSL4-related disorder
Craniosynostosis with ectopia lentis
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.09
gnomAD pLI: 0
gnomAD missense Z: 0.08
DepMap mean gene effect: -0.25
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

apoptotic process
epithelial cell development
extracellular matrix organization
positive regulation of apoptotic process
pigment cell development

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ADAMTSL4 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ADAMTSL4 as an antibody target. Whether an autoantibody or antibody against ADAMTSL4 could matter depends on whether native ADAMTSL4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ADAMTSL4 is annotated as secreted, so native ADAMTSL4 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label ADAMTSL4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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