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TAMM41 TAM41 mitochondrial translocator assembly and maintenance homolog [ Homo sapiens (human) ]

Gene ID: 132001, updated on 27-Nov-2024

Summary

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Official Symbol
TAMM41provided by HGNC
Official Full Name
TAM41 mitochondrial translocator assembly and maintenance homologprovided by HGNC
Primary source
HGNC:HGNC:25187
See related
Ensembl:ENSG00000144559 MIM:614948; AllianceGenome:HGNC:25187
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
RAM41; TAM41; C3orf31; COXPD56
Summary
Predicted to enable phosphatidate cytidylyltransferase activity. Predicted to be involved in CDP-diacylglycerol biosynthetic process and cardiolipin biosynthetic process. Is active in mitochondrion. Implicated in combined oxidative phosphorylation deficiency 56. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 1.6), lymph node (RPKM 1.4) and 25 other tissues See more
Orthologs
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Genomic context

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See TAMM41 in Genome Data Viewer
Location:
3p25.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (11721896..11846885, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (11717623..11842634, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (11831916..11888359, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene autophagy related 7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:11574579-11575079 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:11586483-11587050 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:11587827-11588328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:11588329-11588828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:11616238-11617058 Neighboring gene CSTB pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:11624893-11625731 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:11634691-11635222 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:11635223-11635753 Neighboring gene Sharpr-MPRA regulatory region 8254 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr3:11642749-11643347 and GRCh37_chr3:11643348-11643945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:11650998-11651770 Neighboring gene vestigial like family member 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19431 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:11680477-11681428 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19432 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19433 Neighboring gene Sharpr-MPRA regulatory region 9131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14062 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19434 Neighboring gene Sharpr-MPRA regulatory region 5418 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:11826643-11827198 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:11940509-11941010 Neighboring gene FANCD2 pseudogene 2 Neighboring gene CYCS pseudogene 12 Neighboring gene nucleoporin 210 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Mitochondrial membrane biogenesis: phospholipids and proteins go hand in hand. Gohil VM, et al. J Cell Biol, 2009 Feb 23. PMID 19237595, Free PMC Article
  2. Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease. Zhang X, et al. Alzheimers Dement, 2022 Feb. PMID 34152079, Free PMC Article
  3. Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. Kendler KS, et al. Alcohol Clin Exp Res, 2011 May. PMID 21314694, Free PMC Article
  4. Mitochondrial CDP-diacylglycerol synthase activity is due to the peripheral protein, TAMM41 and not due to the integral membrane protein, CDP-diacylglycerol synthase 1. Blunsom NJ, et al. Biochim Biophys Acta Mol Cell Biol Lipids, 2018 Mar. PMID 29253589, Free PMC Article
  5. Mieap forms membrane-less organelles involved in cardiolipin metabolism. Ikari N, et al. iScience, 2024 Feb 16. PMID 38322995, Free PMC Article

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
    Title: Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 56
MedGen: C5774261 OMIM: 620139 GeneReviews: Not available
not available

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

Homology

Clone Names

  • FLJ14209, MGC16471, DKFZp434E0519

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phosphatidate cytidylyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidate cytidylyltransferase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in CDP-diacylglycerol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in CDP-diacylglycerol biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in cardiolipin biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cardiolipin biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cardiolipin biosynthetic process TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extrinsic component of mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrial inner membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
phosphatidate cytidylyltransferase, mitochondrial
Names
CDP-DAG synthase
CDP-diacylglycerol synthase
MMP37-like protein, mitochondrial
TAM41, mitochondrial translocator assembly and maintenance protein, homolog
mitochondrial translocator assembly and maintenance protein 41 homolog
NP_001271330.1
NP_001308223.1
NP_001308224.1
NP_001352960.1
NP_001381403.1
NP_620162.1
XP_005264932.1
XP_016861214.1
XP_016861215.1
XP_047303413.1
XP_054201237.1
XP_054201238.1
XP_054201239.1
XP_054201240.1

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_001284401.2 → NP_001271330.1  phosphatidate cytidylyltransferase, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001271330.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AK092776, AL561371, AL561480, BC015088, BM678701, DB475191
    Consensus CDS
    CCDS68345.1
    UniProtKB/Swiss-Prot
    Q96BW9
    Related
    ENSP00000398596.1, ENST00000455809.6
    Conserved Domains (1) summary
    pfam09139
    Location:13 → 327
    Mmp37; Mitochondrial matrix Mmp37

  2. NM_001321294.2 → NP_001308223.1  phosphatidate cytidylyltransferase, mitochondrial isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an additional exon, and it thus differs in its 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a distinct and shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC090958, AK092776, AL561371, AL561480, BC015088, BM678701, DB155729, DB475191
    UniProtKB/Swiss-Prot
    Q96BW9
    Conserved Domains (1) summary
    pfam09139
    Location:5 → 286
    Mmp37; Mitochondrial matrix Mmp37

  3. NM_001321295.2 → NP_001308224.1  phosphatidate cytidylyltransferase, mitochondrial isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains two additional exons, and it thus differs in its 5' UTR and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC090958, AK092776, AL561371, AL561480, BC015088, BM678701, BM821725, DB155729, DB475191
    UniProtKB/Swiss-Prot
    Q96BW9
    Conserved Domains (1) summary
    pfam09139
    Location:1 → 161
    Mmp37; Mitochondrial matrix Mmp37

  4. NM_001366031.2 → NP_001352960.1  phosphatidate cytidylyltransferase, mitochondrial isoform e precursor

    Status: VALIDATED

    Source sequence(s)
    AC090958
    UniProtKB/TrEMBL
    A0A0G2JQ92
    Conserved Domains (1) summary
    pfam09139
    Location:13 → 236
    Mmp37; Mitochondrial matrix Mmp37

  5. NM_001394474.1 → NP_001381403.1  phosphatidate cytidylyltransferase, mitochondrial isoform f

    Status: VALIDATED

    Source sequence(s)
    AC090939, AC090958
    Consensus CDS
    CCDS93211.1
    UniProtKB/Swiss-Prot
    B4DIY7, C9J2U4, Q96BW9
    Related
    ENSP00000388598.2, ENST00000444133.6
    Conserved Domains (1) summary
    pfam09139
    Location:13 → 316
    Mmp37; Mitochondrial matrix Mmp37

  6. NM_138807.4 → NP_620162.1  phosphatidate cytidylyltransferase, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_620162.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
    Source sequence(s)
    BC015088, BM678701, DB475191
    Consensus CDS
    CCDS2607.1
    UniProtKB/Swiss-Prot
    Q96BW9
    Related
    ENSP00000273037.5, ENST00000273037.9
    Conserved Domains (1) summary
    pfam09139
    Location:13 → 303
    Mmp37; Mitochondrial matrix Mmp37

RNA

  1. NR_104314.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) includes two additional internal exons and uses an alternate splice site, compared to variant 1. This variant is represented as non-coding because use of the expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK092776, BC015088, BM678701, DB475191
    Related
    ENST00000457498.5

  2. NR_135609.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains three additional exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC090939, AC090958, AK092776, AK303598, AL561371, AL561480, BC015088, BM678701, BM821725, DB155729, DB475191

  3. NR_135610.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) contains two additional exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC090939, AC090958, AK092776, AL561371, AL561480, BC015088, BM678701, BM821725, DB155729, DB475191

  4. NR_135611.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) contains an additional exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC090939, AK092776, AL561371, AL561480, BC015088, BM678701, DB475191

  5. NR_158710.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC090939, AC090958

  6. NR_158711.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC090939, AC090958

  7. NR_158712.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC090939, AC090958

  8. NR_158713.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC090958

  9. NR_158714.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC090939, AC090958

  10. NR_158715.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC090958

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

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    11721896..11846885 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017005725.3 → XP_016861214.1  phosphatidate cytidylyltransferase, mitochondrial isoform X1

  2. XM_005264875.5 → XP_005264932.1  phosphatidate cytidylyltransferase, mitochondrial isoform X4

    Conserved Domains (1) summary
    pfam09139
    Location:13 → 187
    Mmp37; Mitochondrial matrix Mmp37

  3. XM_017005726.3 → XP_016861215.1  phosphatidate cytidylyltransferase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A0G2JQ92

  4. XM_047447457.1 → XP_047303413.1  phosphatidate cytidylyltransferase, mitochondrial isoform X3

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NW_003871060.2 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    141534..172127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    11717623..11842634 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054345262.1 → XP_054201237.1  phosphatidate cytidylyltransferase, mitochondrial isoform X1

  2. XM_054345265.1 → XP_054201240.1  phosphatidate cytidylyltransferase, mitochondrial isoform X4

  3. XM_054345263.1 → XP_054201238.1  phosphatidate cytidylyltransferase, mitochondrial isoform X2

  4. XM_054345264.1 → XP_054201239.1  phosphatidate cytidylyltransferase, mitochondrial isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96BW9.2 GenPept UniProtKB/Swiss-Prot:Q96BW9

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