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AFG3L1P AFG3 like matrix AAA peptidase subunit 1, pseudogene [ Homo sapiens (human) ]

Gene ID: 172, updated on 5-Jan-2022

Summary

Official Symbol
AFG3L1Pprovided by HGNC
Official Full Name
AFG3 like matrix AAA peptidase subunit 1, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:314
See related
Ensembl:ENSG00000223959 MIM:603020
Gene type
pseudo
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AFG3; AFG3L1
Summary
Predicted to be involved in protein processing. Predicted to act upstream of or within cristae formation; mitochondrial fusion; and mitochondrial protein processing. Predicted to be located in mitochondrial inner membrane. Predicted to be part of m-AAA complex. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in skin (RPKM 5.2), lymph node (RPKM 5.0) and 25 other tissues See more
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Genomic context

See AFG3L1P in Genome Data Viewer
Location:
16q24.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (89972580..90000787)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (90038988..90067195)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA, H/ACA box 119 Neighboring gene differentially expressed in FDCP 8 homolog Neighboring gene CENPB DNA-binding domain containing 1, pseudogene Neighboring gene Sharpr-MPRA regulatory region 3926 Neighboring gene dysbindin domain containing 1 Neighboring gene growth arrest specific 8 Neighboring gene GAS8 antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Genome-wide association study identifies three loci associated with melanoma risk.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Other Names

  • AFG3 (ATPase family gene 3, yeast)-like 1
  • AFG3 ATPase family gene 3-like 1, pseudogene
  • AFG3 ATPase family member 3-like 1, pseudogene
  • AFG3 like AAA ATPase 1, pseudogene

Clone Names

  • FLJ45200

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.

RNA

  1. NR_003226.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC092143, AK091293, BM986843, DA707802
    Related
    ENST00000437774.5
  2. NR_003227.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1.
    Source sequence(s)
    AC092143, AK097044, BM986843, DA707802
    Related
    ENST00000457926.5
  3. NR_003228.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains alternate 3' exons, as compared to variant 1.
    Source sequence(s)
    AC092143, AF329691, DA707802, DB318727

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    89972580..90000787
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001031805.1: Suppressed sequence

    Description
    NM_001031805.1: This RefSeq was permanently suppressed because it is now thought that this locus is translationally silent in human.
  2. NM_001132.2: Suppressed sequence

    Description
    NM_001132.2: This RefSeq was permanently suppressed because it is now thought that this locus is translationally silent in human.
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