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

Gene ID: 132001, updated on 10-Oct-2024

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; 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. Predicted to be located in mitochondrial inner membrane. Predicted to be extrinsic component of mitochondrial inner membrane. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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

    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: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
    UniProtKB/TrEMBL
    A0A0G2JQ92
    Conserved Domains (1) summary
    pfam09139
    Location:13236
    Mmp37; Mitochondrial matrix Mmp37
  5. NM_001394474.1NP_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:13316
    Mmp37; Mitochondrial matrix Mmp37
  6. NM_138807.4NP_620162.1  phosphatidate cytidylyltransferase, mitochondrial isoform b precursor

    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_104314.2 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_017005725.3XP_016861214.1  phosphatidate cytidylyltransferase, mitochondrial isoform X1

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

    Conserved Domains (1) summary
    pfam09139
    Location:13187
    Mmp37; Mitochondrial matrix Mmp37
  3. XM_017005726.3XP_016861215.1  phosphatidate cytidylyltransferase, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A0G2JQ92
  4. XM_047447457.1XP_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_054345262.1XP_054201237.1  phosphatidate cytidylyltransferase, mitochondrial isoform X1

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

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

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