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

Summary

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

Location:: 20p13

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (2794074..2800627, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (2824548..2831102, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (2774720..2781273, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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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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

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

EC 3.4.17.10

NP_062555.1

EC 3.4.17.10

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)

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
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.