MMP23B matrix metallopeptidase 23B [Homo sapiens (human)] - Gene

Summary

Official Symbol: MMP23Bprovided by HGNC
Official Full Name: matrix metallopeptidase 23Bprovided by HGNC
Primary source: HGNC:HGNC:7171
See related: Ensembl:ENSG00000189409 MIM:603321; AllianceGenome:HGNC:7171
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: MIFR; MMP22; MIFR-1; MMP23A
Summary: This gene (MMP23B) encodes a member of the matrix metalloproteinase (MMP) family, and it is part of a duplicated region of chromosome 1p36.3. Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. This gene belongs to the more telomeric copy of the duplicated region. [provided by RefSeq, Jul 2008]
Expression: Broad expression in placenta (RPKM 4.1), prostate (RPKM 3.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.33

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (1632173..1634654)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (1066677..1069155)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (1567552..1570030)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

There is evidence of MMP23B secretion in plasma and urine, suggesting a role of this poorly characterized metalloproteinase in urinary bladder cancer as a potential non-invasive biomarker for this cancer
Title: MMP23B expression and protein levels in blood and urine are associated with bladder cancer.
Compares rat and human proteins, describes unique Type II membrane topology, and suggests a role in reproductive processes.
Title: Cloning and characterization of a rat ortholog of MMP-23 (matrix metalloproteinase-23), a unique type of membrane-anchored matrix metalloproteinase and conditioned switching of its expression during the ovarian follicular development.

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Phenotypes

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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 metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
enables metalloendopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables metallopeptidase activity	NAS Non-traceable Author Statement more info	PubMed
enables zinc ion binding	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in collagen catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in extracellular matrix organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: matrix metalloproteinase-23

Names: MMP-21; MMP-22; MMP-23; femalysin; matrix metalloproteinase 22; matrix metalloproteinase 23B; matrix metalloproteinase in the female reproductive tract; matrix metalloproteinase-21

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_006983.2 → NP_008914.1 matrix metalloproteinase-23 precursor

See identical proteins and their annotated locations for NP_008914.1

Status: REVIEWED

Source sequence(s)

AJ005256, FO704657

Consensus CDS

CCDS30559.1

UniProtKB/Swiss-Prot

A2AGN0, A2AGN1, O75894, O75895, O75900, Q5QPQ8, Q76P96, Q7LDM6, Q7LDM7, Q9UBR9, Q9UJK8

Related

ENSP00000348308.5, ENST00000356026.10

Conserved Domains (3) summary

smart00408
Location:313 → 373

IGc2; Immunoglobulin C-2 Type

smart00254
Location:255 → 289

ShKT; ShK toxin domain

cd04278
Location:87 → 254

ZnMc_MMP; Zinc-dependent metalloprotease, matrix metalloproteinase (MMP) sub-family. MMPs are responsible for a great deal of pericellular proteolysis of extracellular matrix and cell surface molecules, playing crucial roles in morphogenesis, cell fate ...