Seroatlas · Human Serome Atlas

CRELD1

Protein disulfide isomerase CRELD1

Also known as: AVSD2, CIRRIN, CREL1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q96HD1
Gene
CRELD1
Ensembl
ENSG00000163703
Chromosome
3
Canonical length
420 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoli,Cytosol
Secretome location
Intracellular and membrane

OverviewNCBI Gene

This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

420 residues, UniProt reviewed canonical sequence.

>Q96HD1|CRELD1
     1  MAPWPPKGLV PAMLWGLSLF LNLPGPIWLQ PSPPPQSSPP PQPHPCHTCR GLVDSFNKGL
    61  ERTIRDNFGG GNTAWEEENL SKYKDSETRL VEVLEGVCSK SDFECHRLLE LSEELVESWW
   121  FHKQQEAPDL FQWLCSDSLK LCCPAGTFGP SCLPCPGGTE RPCGGYGQCE GEGTRGGSGH
   181  CDCQAGYGGE ACGQCGLGYF EAERNASHLV CSACFGPCAR CSGPEESNCL QCKKGWALHH
   241  LKCVDIDECG TEGANCGADQ FCVNTEGSYE CRDCAKACLG CMGAGPGRCK KCSPGYQQVG
   301  SKCLDVDECE TEVCPGENKQ CENTEGGYRC ICAEGYKQME GICVKEQIPE SAGFFSEMTE
   361  DELVVLQQMF FGIIICALAT LAAKGDLVFT AIFIGAVAAM TGYWLSERSD RVLEGFIKGR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRELD1 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
2
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
32 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 32 nTPM
  • choroid plexus: 23 nTPM
  • seminal vesicle: 19 nTPM
  • skeletal muscle: 17 nTPM
  • hypothalamus: 17 nTPM
  • adipose tissue: 16 nTPM

Single-cell type

  • brain inhibitory neurons: 45 nCPM
  • brain excitatory neurons: 45 nCPM
  • astrocytes: 43 nCPM
  • other brain neurons: 42 nCPM
  • bergmann glia: 39 nCPM
  • choroid plexus epithelial cells: 34 nCPM

Immune cell

  • NK-cell: 9 nTPM
  • basophil: 8.8 nTPM
  • plasmacytoid DC: 7.7 nTPM
  • MAIT T-cell: 7 nTPM
  • naive CD4 T-cell: 6.7 nTPM
  • gdT-cell: 6.6 nTPM

Brain region

  • hypothalamus: 21 nTPM
  • pons: 21 nTPM
  • medulla oblongata: 17 nTPM
  • midbrain: 17 nTPM
  • cerebral cortex: 17 nTPM
  • thalamus: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRELD1.

Disease | AllUniProt

Conditions CRELD1 is implicated in, by any mechanism.

  • Atrioventricular septal defect 2 (AVSD2) MIM:606217
  • Jeffries-Lakhani neurodevelopmental syndrome (JELANS) MIM:620771

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 242 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
1.05
gnomAD pLI
0
gnomAD missense Z
0.17
DepMap mean gene effect
0.01
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CRELD1 as an antibody target. Whether an autoantibody or antibody against CRELD1 could matter depends on whether native CRELD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CRELD1 is annotated as secreted, so native CRELD1 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 CRELD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/CRELD1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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