IMMP1L inner mitochondrial membrane peptidase subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IMMP1Lprovided by HGNC
Official Full Name: inner mitochondrial membrane peptidase subunit 1provided by HGNC
Primary source: HGNC:HGNC:26317
See related: Ensembl:ENSG00000148950 MIM:612323; AllianceGenome:HGNC:26317
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: IMP1; IMMP1; IMP1-LIKE
Summary: The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]
Expression: Ubiquitous expression in fat (RPKM 7.2), prostate (RPKM 6.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p13

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (31432401..31509622, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (31568225..31645460, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (31453948..31531169, complement)

Chromosome 11 - NC_000011.10 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 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?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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

EBI GWAS Catalog

Description
Genome-wide association and admixture analysis of glaucoma in the Women's Health Initiative. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Markers

D11S2721 (e-PCR)
- UniSTS:151942

RH102333 (e-PCR)
- UniSTS:96667

RH104200 (e-PCR)
- UniSTS:98525

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein processing involved in protein targeting to mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal peptide processing	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	NAS Non-traceable Author Statement more info	PubMed
part_of mitochondrial inner membrane peptidase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial inner membrane peptidase complex	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: mitochondrial inner membrane protease subunit 1

Names: IMP1 inner mitochondrial membrane peptidase-like

NP_001291203.1

EC 3.4.21.-

NP_659418.1

EC 3.4.21.-

XP_005252869.1

EC 3.4.21.-

XP_011518244.1

EC 3.4.21.-

XP_011518245.1

EC 3.4.21.-

XP_011518247.1

EC 3.4.21.-

XP_011518248.1

EC 3.4.21.-

XP_011518249.1

EC 3.4.21.-

XP_016872794.1

EC 3.4.21.-

XP_016872795.1

EC 3.4.21.-

XP_047282476.1

EC 3.4.21.-

XP_047282477.1

EC 3.4.21.-

XP_054223925.1

EC 3.4.21.-

XP_054223926.1

EC 3.4.21.-

XP_054223927.1

EC 3.4.21.-

XP_054223928.1

EC 3.4.21.-

XP_054223929.1

EC 3.4.21.-

XP_054223930.1

EC 3.4.21.-

XP_054223931.1

EC 3.4.21.-

XP_054223932.1

EC 3.4.21.-

XP_054223933.1

EC 3.4.21.-

XP_054223934.1

EC 3.4.21.-

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_001304274.2 → NP_001291203.1 mitochondrial inner membrane protease subunit 1

See identical proteins and their annotated locations for NP_001291203.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

BC023595, DB288287

Consensus CDS

CCDS7874.1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Related

ENSP00000435576.1, ENST00000532287.6

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
NM_144981.3 → NP_659418.1 mitochondrial inner membrane protease subunit 1

See identical proteins and their annotated locations for NP_659418.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AK057788, AW295209, DB288287

Consensus CDS

CCDS7874.1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Related

ENSP00000278200.1, ENST00000278200.5

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

31432401..31509622 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426521.1 → XP_047282477.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_011519947.3 → XP_011518249.1 mitochondrial inner membrane protease subunit 1 isoform X1

See identical proteins and their annotated locations for XP_011518249.1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
XM_011519945.3 → XP_011518247.1 mitochondrial inner membrane protease subunit 1 isoform X1

See identical proteins and their annotated locations for XP_011518247.1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
XM_047426520.1 → XP_047282476.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_011519946.3 → XP_011518248.1 mitochondrial inner membrane protease subunit 1 isoform X1

See identical proteins and their annotated locations for XP_011518248.1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
XM_011519942.2 → XP_011518244.1 mitochondrial inner membrane protease subunit 1 isoform X1

See identical proteins and their annotated locations for XP_011518244.1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
XM_017017305.2 → XP_016872794.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
XM_017017306.2 → XP_016872795.1 mitochondrial inner membrane protease subunit 1 isoform X2
XM_005252812.4 → XP_005252869.1 mitochondrial inner membrane protease subunit 1 isoform X1

See identical proteins and their annotated locations for XP_005252869.1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...
XM_011519943.3 → XP_011518245.1 mitochondrial inner membrane protease subunit 1 isoform X1

See identical proteins and their annotated locations for XP_011518245.1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9

Conserved Domains (1) summary

cd06530
Location:33 → 141

S26_SPase_I; The S26 Type I signal peptidase (SPase; LepB; leader peptidase B; leader peptidase I; EC 3.4.21.89) family members are essential membrane-bound serine proteases that function to cleave the amino-terminal signal peptide extension from proteins that are ...

RNA

XR_242781.4 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

31568225..31645460 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367955.1 → XP_054223930.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_054367952.1 → XP_054223927.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_054367954.1 → XP_054223929.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_054367957.1 → XP_054223932.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_054367950.1 → XP_054223925.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_054367953.1 → XP_054223928.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_054367959.1 → XP_054223934.1 mitochondrial inner membrane protease subunit 1 isoform X2
XM_054367956.1 → XP_054223931.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_054367951.1 → XP_054223926.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9
XM_054367958.1 → XP_054223933.1 mitochondrial inner membrane protease subunit 1 isoform X1

UniProtKB/Swiss-Prot

D3DQZ7, Q96LU5, Q96SH9