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MTHFSD methenyltetrahydrofolate synthetase domain containing [ Homo sapiens (human) ]

Gene ID: 64779, updated on 5-Nov-2017
Official Symbol
MTHFSDprovided by HGNC
Official Full Name
methenyltetrahydrofolate synthetase domain containingprovided by HGNC
Primary source
HGNC:HGNC:25778
See related
Ensembl:ENSG00000103248 MIM:616820; Vega:OTTHUMG00000176480
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
Expression
Ubiquitous expression in testis (RPKM 3.7), prostate (RPKM 2.2) and 25 other tissues See more
Orthologs
Location:
16q24.1
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (86530176..86555235, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86563782..86588841, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene forkhead box F1 Neighboring gene ribosomal protein L7a pseudogene 63 Neighboring gene uncharacterized protein FLJ30679 Neighboring gene FOXC2 antisense RNA 1 Neighboring gene forkhead box C2

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ12998, FLJ13893, MGC138262, MGC138264, MGC177233

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
intracellular mRNA localization IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
methenyltetrahydrofolate synthase domain-containing protein
Names
methenyltetrahydrofolate synthetase domain-containing protein

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_001159377.1NP_001152849.1  methenyltetrahydrofolate synthase domain-containing protein isoform 1

    See identical proteins and their annotated locations for NP_001152849.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC009108, AK297726, BC112059
    Consensus CDS
    CCDS54047.1
    UniProtKB/Swiss-Prot
    Q2M296
    UniProtKB/TrEMBL
    B4DN17
    Related
    ENSP00000354152.6, OTTHUMP00000254359, ENST00000360900.10, OTTHUMT00000432182
    Conserved Domains (2) summary
    cd12270
    Location:307378
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:10207
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  2. NM_001159378.1NP_001152850.1  methenyltetrahydrofolate synthase domain-containing protein isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has alternate splice sites in the 5' coding region, compared to variant 1. The resulting isoform (2) is of the same size, but has a different internal segment, compared to isoform 1.
    Source sequence(s)
    AC009108, AK297726, BC143707
    Consensus CDS
    CCDS54048.1
    UniProtKB/Swiss-Prot
    Q2M296
    UniProtKB/TrEMBL
    B4DN17
    Related
    ENSP00000370612.5, OTTHUMP00000254362, ENST00000381214.9, OTTHUMT00000432186
    Conserved Domains (2) summary
    COG0212
    Location:10211
    FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]
    cd12270
    Location:307378
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
  3. NM_001159379.1NP_001152851.1  methenyltetrahydrofolate synthase domain-containing protein isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has alternate splice sites in the 5' coding region, compared to variant 1. The resulting isoform (4) is one aa shorter, and has a different internal segment, compared to isoform 1.
    Source sequence(s)
    AC009108, AK297726
    Consensus CDS
    CCDS58490.1
    UniProtKB/TrEMBL
    B4DN17
    Related
    ENSP00000444003.2, OTTHUMP00000254361, ENST00000543303.6, OTTHUMT00000432185
    Conserved Domains (2) summary
    COG0212
    Location:9210
    FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]
    cd12270
    Location:306377
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
  4. NM_001159380.1NP_001152852.1  methenyltetrahydrofolate synthase domain-containing protein isoform 5

    See identical proteins and their annotated locations for NP_001152852.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has an alternate splice site in the 5' coding region, which results in a downstream AUG start codon, compared to variant 1. The resulting isoform (5) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC009108, BC143705
    Conserved Domains (2) summary
    cd12270
    Location:287358
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:10187
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  5. NM_022764.2NP_073601.2  methenyltetrahydrofolate synthase domain-containing protein isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate splice site in the 5' coding region, compared to variant 1. The resulting isoform (3) is one aa shorter, compared to isoform 1.
    Source sequence(s)
    AC009108, AI263847, AK023955, AK297726
    Consensus CDS
    CCDS42211.1
    UniProtKB/Swiss-Prot
    Q2M296
    UniProtKB/TrEMBL
    B4DN17
    Related
    ENSP00000489295.1, OTTHUMP00000281546, ENST00000634347.1, OTTHUMT00000488628
    Conserved Domains (2) summary
    cd12270
    Location:306377
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:9206
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family

RNA

  1. NR_027489.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) has alternate splice sites and an additional exon in the 5' coding region, which results in an earlier stop codon, compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate and is unlikely to make a functional protein.
    Source sequence(s)
    AC009108, AK096836
  2. NR_027490.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has an additional segment in the 5' coding region, which includes a stop codon, compared to variant 1. The transcript is a nonsense-mediated mRNA decay (NMD) candidate and is unlikely to make a functional protein.
    Source sequence(s)
    AC009108, AK297726, BC143703

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

    Range
    86530176..86555235 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523288.1XP_011521590.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

    See identical proteins and their annotated locations for XP_011521590.1

    UniProtKB/TrEMBL
    F5H0M7
    Conserved Domains (2) summary
    cd12270
    Location:144215
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1048
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  2. XM_017023572.1XP_016879061.1  methenyltetrahydrofolate synthase domain-containing protein isoform X2

  3. XM_017023571.1XP_016879060.1  methenyltetrahydrofolate synthase domain-containing protein isoform X1

  4. XM_017023574.1XP_016879063.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

    UniProtKB/TrEMBL
    F5H0M7
    Conserved Domains (2) summary
    cd12270
    Location:144215
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1048
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  5. XM_006721247.3XP_006721310.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

    See identical proteins and their annotated locations for XP_006721310.1

    UniProtKB/TrEMBL
    F5H0M7
    Conserved Domains (2) summary
    cd12270
    Location:144215
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1048
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  6. XM_011523287.1XP_011521589.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

    See identical proteins and their annotated locations for XP_011521589.1

    UniProtKB/TrEMBL
    F5H0M7
    Conserved Domains (2) summary
    cd12270
    Location:144215
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1048
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  7. XM_011523285.1XP_011521587.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

    See identical proteins and their annotated locations for XP_011521587.1

    UniProtKB/TrEMBL
    F5H0M7
    Related
    ENSP00000438761.1, OTTHUMP00000254360, ENST00000546093.5, OTTHUMT00000432184
    Conserved Domains (2) summary
    cd12270
    Location:144215
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1048
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  8. XM_017023573.1XP_016879062.1  methenyltetrahydrofolate synthase domain-containing protein isoform X7

    Conserved Domains (2) summary
    cd12270
    Location:165236
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:569
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  9. XM_005256106.1XP_005256163.1  methenyltetrahydrofolate synthase domain-containing protein isoform X7

    See identical proteins and their annotated locations for XP_005256163.1

    Conserved Domains (2) summary
    cd12270
    Location:165236
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:569
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  10. XM_011523289.1XP_011521591.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

    See identical proteins and their annotated locations for XP_011521591.1

    UniProtKB/TrEMBL
    F5H0M7
    Conserved Domains (2) summary
    cd12270
    Location:144215
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1048
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  11. XM_011523286.1XP_011521588.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

    See identical proteins and their annotated locations for XP_011521588.1

    UniProtKB/TrEMBL
    F5H0M7
    Conserved Domains (2) summary
    cd12270
    Location:144215
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1048
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  12. XM_005256105.1XP_005256162.1  methenyltetrahydrofolate synthase domain-containing protein isoform X7

    See identical proteins and their annotated locations for XP_005256162.1

    Conserved Domains (2) summary
    cd12270
    Location:165236
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:569
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  13. XM_005256101.1XP_005256158.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

    See identical proteins and their annotated locations for XP_005256158.1

    Conserved Domains (2) summary
    cd12270
    Location:287358
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1191
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  14. XM_011523280.2XP_011521582.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

    See identical proteins and their annotated locations for XP_011521582.1

    Conserved Domains (2) summary
    cd12270
    Location:287358
    RRM_MTHFSD; RNA recognition motif in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:1191
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  15. XM_011523282.2XP_011521584.1  methenyltetrahydrofolate synthase domain-containing protein isoform X4

    Conserved Domains (1) summary
    COG0212
    Location:10211
    FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]
  16. XM_011523284.2XP_011521586.1  methenyltetrahydrofolate synthase domain-containing protein isoform X6

    Related
    ENSP00000456652.2, OTTHUMP00000254365, ENST00000562940.6, OTTHUMT00000432190
    Conserved Domains (1) summary
    cl00360
    Location:10207
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  17. XM_011523283.2XP_011521585.1  methenyltetrahydrofolate synthase domain-containing protein isoform X5

    Conserved Domains (1) summary
    COG0212
    Location:10211
    FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]

Alternate CHM1_1.1

Genomic

  1. NC_018927.2 Alternate CHM1_1.1

    Range
    87975494..88000569 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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