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TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 [ Homo sapiens (human) ]

Gene ID: 51300, updated on 13-Jun-2021

Summary

Official Symbol
TIMMDC1provided by HGNC
Official Full Name
translocase of inner mitochondrial membrane domain containing 1provided by HGNC
Primary source
HGNC:HGNC:1321
See related
Ensembl:ENSG00000113845 MIM:615534
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
C3orf1; MC1DN31
Expression
Ubiquitous expression in heart (RPKM 43.9), thyroid (RPKM 31.3) and 25 other tissues See more
Orthologs
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Genomic context

See TIMMDC1 in Genome Data Viewer
Location:
3q13.33
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (119498525..119525090)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (119217394..119243937)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene transmembrane protein 39A Neighboring gene protein O-glucosyltransferase 1 Neighboring gene CD80 molecule Neighboring gene cysteine and glycine rich protein 2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 12076

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

Associated conditions

Description Tests
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
GeneReviews: Not available
Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13.
GeneReviews: Not available
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
GeneReviews: Not available
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
GeneReviews: Not available
Mitochondrial complex 1 deficiency, nuclear type 31
MedGen: C4748838 OMIM: 618251 GeneReviews: Not available
not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22597

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 respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
complex I assembly factor TIMMDC1, mitochondrial
Names
M5-14 protein
TIMM domain containing-protein 1
translocase of inner mitochondrial membrane domain-containing protein 1
transmembrane protein C3orf1

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)

  1. NM_016589.4NP_057673.2  complex I assembly factor TIMMDC1, mitochondrial precursor

    See identical proteins and their annotated locations for NP_057673.2

    Status: VALIDATED

    Source sequence(s)
    AC073352, AF139077, BG705703, CB105366
    Consensus CDS
    CCDS33831.1
    UniProtKB/Swiss-Prot
    Q9NPL8
    Related
    ENSP00000418803.1, ENST00000494664.6
    Conserved Domains (1) summary
    pfam02466
    Location:77199
    Tim17; Tim17/Tim22/Tim23/Pmp24 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    119498525..119525090
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006556.1XP_016862045.1  complex I assembly factor TIMMDC1, mitochondrial isoform X1

    UniProtKB/TrEMBL
    C9JU35
    Related
    ENSP00000419510.1, ENST00000493694.1
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