SMIM20 small integral membrane protein 20 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SMIM20provided by HGNC
Official Full Name: small integral membrane protein 20provided by HGNC
Primary source: HGNC:HGNC:37260
See related: Ensembl:ENSG00000250317 MIM:617465; AllianceGenome:HGNC:37260
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: PNX; C4orf52; MITRAC7
Summary: Involved in mitochondrial cytochrome c oxidase assembly. Located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney (RPKM 18.0), duodenum (RPKM 16.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p15.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (25914220..25929812)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (25896311..25911902)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (25915842..25931434)

Chromosome 4 - NC_000004.12 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?

MITRAC7 affects the biogenesis pathway by stabilizing newly synthesized COX1 in assembly intermediates, concomitantly preventing turnover.
Title: MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly.
SMIM20 (MITRAC7) is a COX1 specific chaperone which is necessary for cytochrome c oxidase biogenesis.
Title: MITRAC7 Acts as a COX1-Specific Chaperone and Reveals a Checkpoint during Cytochrome c Oxidase Assembly.

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 protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mitochondrial cytochrome c oxidase assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial cytochrome c oxidase assembly	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in mitochondrial inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: small integral membrane protein 20

Names: mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 7 kDa; phoenixin

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_001145432.3 → NP_001138904.1 small integral membrane protein 20 isoform 1

See identical proteins and their annotated locations for NP_001138904.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC133961

Consensus CDS

CCDS47038.1

UniProtKB/Swiss-Prot

C9JYT8, Q8N5G0, Q9BRT5

Related

ENSP00000427407.2, ENST00000506197.3

Conserved Domains (1) summary

pfam15061
Location:2 → 57

DUF4538; Domain of unknown function (DUF4538)
NM_001394130.1 → NP_001381059.1 small integral membrane protein 20 isoform 2

Status: VALIDATED

Source sequence(s)

AC133961

Consensus CDS

CCDS93489.1

UniProtKB/TrEMBL

E5RH91

Related

ENSP00000429820.1, ENST00000514384.1

Conserved Domains (1) summary

pfam15061
Location:2 → 37

DUF4538; Domain of unknown function (DUF4538)