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

    Gene ID: 132001, updated on 10-Dec-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, Dec 2024]
    Expression
    Ubiquitous expression in ovary (RPKM 1.6), lymph node (RPKM 1.4) and 25 other tissues See more
    Orthologs
    mouse all
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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
    		Compare labs

    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

      UniProtKB/TrEMBL
      A0A0G2JQ92

    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

      UniProtKB/TrEMBL
      A0A0G2JQ92

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

      UniProtKB/TrEMBL
      A0A0G2JQ92
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BW9.2 GenPept UniProtKB/Swiss-Prot:Q96BW9

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