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    CPXM1 carboxypeptidase X, M14 family member 1 [ Homo sapiens (human) ]

    Gene ID: 56265, updated on 9-Dec-2024

    Summary

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    Official Symbol
    CPXM1provided by HGNC
    Official Full Name
    carboxypeptidase X, M14 family member 1provided by HGNC
    Primary source
    HGNC:HGNC:15771
    See related
    Ensembl:ENSG00000088882 MIM:609555; AllianceGenome:HGNC:15771
    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
    CPX1; CPXM
    Summary
    This gene likely encodes a member of the carboxypeptidase family of proteins. Cloning of a comparable locus in mouse indicates that the encoded protein contains a discoidin domain and a carboxypeptidase domain, but the protein appears to lack residues necessary for carboxypeptidase activity.[provided by RefSeq, May 2010]
    Expression
    Biased expression in endometrium (RPKM 64.0), gall bladder (RPKM 53.3) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CPXM1 in Genome Data Viewer
    Location:
    20p13
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2794074..2800627, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2824548..2831102, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2774720..2781273, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2674597-2675581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2678055-2678598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2681405-2682133 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:2682134-2682861 Neighboring gene EBF family member 4 Neighboring gene VISTA enhancer hs632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2731029-2731709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2731778-2732289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2739980-2740630 Neighboring gene Sharpr-MPRA regulatory region 9456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17471 Neighboring gene ribosomal protein L19 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2778855-2779842 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2779843-2780830 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2780831-2781816 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12607 Neighboring gene CRISPRi-validated cis-regulatory element chr20.196 Neighboring gene chromosome 20 open reading frame 141 Neighboring gene transmembrane protein 239 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2812614-2813114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17472 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2820603-2821134 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:2821668-2822199 Neighboring gene PC-esterase domain containing 1A Neighboring gene VPS16 core subunit of CORVET and HOPS complexes

    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. Role of CPXM1 in Impaired Glucose Metabolism and Ovarian Dysfunction in Polycystic Ovary Syndrome. Pervaz S, et al. Reprod Sci, 2023 Feb. PMID 35697923
    2. Identification of carboxypeptidase X (CPX)-1 as a positive regulator of adipogenesis. Kim YH, et al. FASEB J, 2016 Jul. PMID 27006448
    3. Carboxypeptidase X-1 (CPX-1) is a secreted collagen-binding glycoprotein. Kim YH, et al. Biochem Biophys Res Commun, 2015 Dec 25. PMID 26603934
    4. Identification of mouse CPX-1, a novel member of the metallocarboxypeptidase gene family with highest similarity to CPX-2. Lei Y, et al. DNA Cell Biol, 1999 Feb. PMID 10073577
    5. An unappreciated role for RNA surveillance. Hillman RT, et al. Genome Biol, 2004. PMID 14759258, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Role of CPXM1 in Impaired Glucose Metabolism and Ovarian Dysfunction in Polycystic Ovary Syndrome.
      Title: Role of CPXM1 in Impaired Glucose Metabolism and Ovarian Dysfunction in Polycystic Ovary Syndrome.
    2. These findings establish CPX-1 as a positive regulator of adipogenesis situated downstream of FGF-1/BAMBI that may contribute to hyperplastic adipose tissue expansion via affecting extracellular matrix remodeling.
      Title: Identification of carboxypeptidase X (CPX)-1 as a positive regulator of adipogenesis.
    3. This paper deals with mouse CPXM.
      Title: Identification of mouse CPX-1, a novel member of the metallocarboxypeptidase gene family with highest similarity to CPX-2.
    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

    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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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metallocarboxypeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    probable carboxypeptidase X1
    Names
    carboxypeptidase X (M14 family), member 1
    carboxypeptidase-like protein X1
    metallocarboxypeptidase CPX-1
    NP_001171628.1
    NP_062555.1

    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_001184699.2 → NP_001171628.1  probable carboxypeptidase X1 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AI470029, AK315027, BC063430
      UniProtKB/Swiss-Prot
      Q96SM3
      Conserved Domains (4) summary
      cd11308
      Location:550 → 626
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
      smart00231
      Location:117 → 274
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:116 → 273
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
      cl11393
      Location:295 → 546
      Peptidase_M14_like; M14 family of metallocarboxypeptidases and related proteins

    2. NM_019609.5 → NP_062555.1  probable carboxypeptidase X1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_062555.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC063430, DB252546
      Consensus CDS
      CCDS13033.1
      UniProtKB/Swiss-Prot
      Q6P4G8, Q6UW65, Q96SM3, Q9NUB5
      Related
      ENSP00000369979.2, ENST00000380605.3
      Conserved Domains (4) summary
      cd03869
      Location:295 → 620
      M14_CPX_like; Peptidase M14 carboxypeptidase subfamily N/E-like; Carboxypeptidase X subgroup
      cd11308
      Location:624 → 700
      Peptidase_M14NE-CP-C_like; Peptidase associated domain: C-terminal domain of M14 N/E carboxypeptidase; putative folding, regulation, or interaction domain
      smart00231
      Location:117 → 274
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
      cd00057
      Location:116 → 273
      FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      2794074..2800627 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      2824548..2831102 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96SM3.2 GenPept UniProtKB/Swiss-Prot:Q96SM3

    Gene LinkOut

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