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

    Gene ID: 132001, updated on 4-Jun-2019

    Summary

    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
    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
    Expression
    Ubiquitous expression in ovary (RPKM 1.6), lymph node (RPKM 1.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See TAMM41 in Genome Data Viewer
    Location:
    3p25.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (11721896..11846919, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (11831916..11888393, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene autophagy related 7 Neighboring gene uncharacterized LOC105376952 Neighboring gene vestigial like family member 4 Neighboring gene FANCD2 pseudogene 2 Neighboring gene CYCS pseudogene 12 Neighboring gene nucleoporin 210 pseudogene 2

    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 FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ14209, MGC16471, DKFZp434E0519

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    phosphatidate cytidylyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    CDP-diacylglycerol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    cardiolipin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    extrinsic component of mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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_620162.1
    XP_005264930.1
    XP_005264932.1
    XP_016861214.1
    XP_016861215.1
    XP_016861216.1
    XP_016861217.1

    NCBI Reference Sequences (RefSeq)

    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_001284401.2NP_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, ENST00000455809.5
      Conserved Domains (1) summary
      pfam09139
      Location:13327
      Mmp37; Mitochondrial matrix Mmp37
    2. NM_001321294.2NP_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:5286
      Mmp37; Mitochondrial matrix Mmp37
    3. NM_001321295.2NP_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:1161
      Mmp37; Mitochondrial matrix Mmp37
    4. NM_001366031.2NP_001352960.1  phosphatidate cytidylyltransferase, mitochondrial isoform e precursor

      Status: VALIDATED

      Source sequence(s)
      AC090958
      Conserved Domains (1) summary
      pfam09139
      Location:13236
      Mmp37; Mitochondrial matrix Mmp37
    5. NM_138807.4NP_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:13303
      Mmp37; Mitochondrial matrix Mmp37

    RNA

    1. NR_104314.1 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_135609.1 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_135610.1 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_135611.1 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_158713.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090958
    9. NR_158714.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090939, AC090958
    10. NR_158715.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090958

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      11721896..11846919 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017005725.2XP_016861214.1  phosphatidate cytidylyltransferase, mitochondrial isoform X2

    2. XM_017005727.1XP_016861216.1  phosphatidate cytidylyltransferase, mitochondrial isoform X4

    3. XM_017005728.2XP_016861217.1  phosphatidate cytidylyltransferase, mitochondrial isoform X6

      Conserved Domains (1) summary
      pfam09139
      Location:1161
      Mmp37; Mitochondrial matrix Mmp37
    4. XM_005264873.4XP_005264930.1  phosphatidate cytidylyltransferase, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_005264930.1

      UniProtKB/Swiss-Prot
      Q96BW9
      Related
      ENSP00000388598.2, ENST00000444133.6
      Conserved Domains (1) summary
      pfam09139
      Location:13316
      Mmp37; Mitochondrial matrix Mmp37
    5. XM_005264875.4XP_005264932.1  phosphatidate cytidylyltransferase, mitochondrial isoform X5

      Conserved Domains (1) summary
      pfam09139
      Location:13187
      Mmp37; Mitochondrial matrix Mmp37
    6. XM_017005726.2XP_016861215.1  phosphatidate cytidylyltransferase, mitochondrial isoform X3

    RNA

    1. XR_001740020.2 RNA Sequence

    2. XR_001740021.2 RNA Sequence

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NW_003871060.2 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      141500..171230
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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