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CPED1 cadherin like and PC-esterase domain containing 1 [ Homo sapiens (human) ]

Gene ID: 79974, updated on 27-Nov-2024

Summary

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Official Symbol
CPED1provided by HGNC
Official Full Name
cadherin like and PC-esterase domain containing 1provided by HGNC
Primary source
HGNC:HGNC:26159
See related
Ensembl:ENSG00000106034 MIM:620637; AllianceGenome:HGNC:26159
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C7orf58
Summary
Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in fat (RPKM 27.4), ovary (RPKM 24.4) and 19 other tissues See more
Orthologs
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Genomic context

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See CPED1 in Genome Data Viewer
Location:
7q31.31
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (120988711..121297442)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (122304057..122612831)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (120628765..120937496)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26556 Neighboring gene RNA, 5S ribosomal pseudogene 240 Neighboring gene inhibitor of growth family member 3 Neighboring gene Sharpr-MPRA regulatory region 12289 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 18 Neighboring gene RNA, 5S ribosomal pseudogene 241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26557 Neighboring gene uncharacterized LOC124901735 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26558 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26560 Neighboring gene RNA, U6 small nuclear 517, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:120931342-120931494 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26561 Neighboring gene Wnt family member 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26562 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:121025354-121025551 Neighboring gene hESC enhancers GRCh37_chr7:121035399-121035984 and GRCh37_chr7:121035985-121036569 Neighboring gene FAM3 metabolism regulating signaling molecule C

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. A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features. Dauwerse JG, et al. Am J Med Genet A, 2010 Feb. PMID 20082467
  2. Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus. Medina-Gomez C, et al. PLoS Genet, 2012 Jul. PMID 22792070, Free PMC Article
  3. Association of regions on chromosomes 6 and 7 with blood pressure in Nigerian families. Tayo BO, et al. Circ Cardiovasc Genet, 2009 Feb. PMID 20031566, Free PMC Article
  4. Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. Kemp JP, et al. PLoS Genet, 2014 Jun. PMID 24945404, Free PMC Article
  5. Novel eukaryotic enzymes modifying cell-surface biopolymers. Anantharaman V, et al. Biol Direct, 2010 Jan 7. PMID 20056006, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Variants at the CPED1 locus were strongly associated with bone mineral density at the skull and upper limb sites, but not with lower limb-bone mineral density.
    Title: Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of regions on chromosomes 6 and 7 with blood pressure in Nigerian families.
Submit: New GeneRIF Correction

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 meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Meta-analysis of genome-wide scans for total body BMD in children and adults reveals allelic heterogeneity and age-specific effects at the WNT16 locus.
EBI GWAS Catalog
Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
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

Clone Names

  • FLJ21986, FLJ26813

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
cadherin-like and PC-esterase domain-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.

mRNA and Protein(s)

  1. NM_001105533.1 → NP_001099003.1  cadherin-like and PC-esterase domain-containing protein 1 isoform 2 precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, and has multiple differences in the presence and absence of exons at its 3' end, compared to variant 1. The resulting isoform (2) is shorter and contains a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AK025639, AY358220, BC017764, BC018685, BQ082412
    Consensus CDS
    CCDS47690.1
    UniProtKB/Swiss-Prot
    A4D0V7
    UniProtKB/TrEMBL
    Q9H6Q5
    Related
    ENSP00000406122.2, ENST00000450913.6
    Conserved Domains (1) summary
    pfam12733
    Location:586 → 667
    Cadherin-like; Cadherin-like beta sandwich domain

  2. NM_024913.5 → NP_079189.4  cadherin-like and PC-esterase domain-containing protein 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_079189.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK130323, AL832619, AL832638, BI496654, BQ082412
    Consensus CDS
    CCDS34739.1
    UniProtKB/Swiss-Prot
    A4D0V7, A8K1R3, Q6UXT1, Q86T76, Q86T84, Q8N2T5, Q96NC9
    Related
    ENSP00000309772.5, ENST00000310396.10
    Conserved Domains (2) summary
    pfam12733
    Location:586 → 667
    Cadherin-like; Cadherin-like beta sandwich domain
    pfam13839
    Location:761 → 1020
    PC-Esterase; GDSL/SGNH-like Acyl-Esterase family found in Pmr5 and Cas1p

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    120988711..121297442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420856.1 → XP_047276812.1  cadherin-like and PC-esterase domain-containing protein 1 isoform X2

  2. XM_047420857.1 → XP_047276813.1  cadherin-like and PC-esterase domain-containing protein 1 isoform X3

  3. XM_024446941.2 → XP_024302709.1  cadherin-like and PC-esterase domain-containing protein 1 isoform X1

    Conserved Domains (1) summary
    pfam12733
    Location:412 → 496
    Cadherin-like; Cadherin-like beta sandwich domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    122304057..122612831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359054.1 → XP_054215029.1  cadherin-like and PC-esterase domain-containing protein 1 isoform X2

  2. XM_054359055.1 → XP_054215030.1  cadherin-like and PC-esterase domain-containing protein 1 isoform X3

  3. XM_054359053.1 → XP_054215028.1  cadherin-like and PC-esterase domain-containing protein 1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A4D0V7.1 GenPept UniProtKB/Swiss-Prot:A4D0V7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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