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

Gene ID: 64779, updated on 13-Aug-2022

Summary

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; AllianceGenome:HGNC:25778
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
Summary
Enables RNA binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.7), prostate (RPKM 2.2) and 25 other tissues See more
Orthologs
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Genomic context

See MTHFSD in Genome Data Viewer
Location:
16q24.1
Exon count:
12
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (86530186..86555235, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (92598486..92623551, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86563792..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

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 Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12998, FLJ13893, MGC138262, MGC138264, MGC177233

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
methenyltetrahydrofolate synthase domain-containing protein
Names
methenyltetrahydrofolate synthetase domain-containing protein

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_001159377.2NP_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, Q9H954
    UniProtKB/TrEMBL
    B4DN17
    Related
    ENSP00000354152.6, ENST00000360900.11
    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_001159378.2NP_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, ENST00000381214.9
    Conserved Domains (2) summary
    COG0212
    Location:10211
    FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]
    cd12270
    Location:307378
    RRM_MTHFSD; RNA recognition motif (RRM) found in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
  3. NM_001159379.2NP_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, ENST00000543303.6
    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_001159380.2NP_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 (RRM) found in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:10187
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  5. NM_022764.3NP_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, ENST00000634347.1
    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_027489.2 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_027490.2 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 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    86530186..86555235 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434506.1XP_047290462.1  methenyltetrahydrofolate synthase domain-containing protein isoform X14

    UniProtKB/TrEMBL
    F5H0M7
    Related
    ENSP00000438761.1, ENST00000546093.5
  2. XM_017023572.3XP_016879061.3  methenyltetrahydrofolate synthase domain-containing protein isoform X2

  3. XM_017023571.2XP_016879060.1  methenyltetrahydrofolate synthase domain-containing protein isoform X1

  4. XM_047434499.1XP_047290455.1  methenyltetrahydrofolate synthase domain-containing protein isoform X3

  5. XM_047434498.1XP_047290454.1  methenyltetrahydrofolate synthase domain-containing protein isoform X4

    Conserved Domains (2) summary
    cd12270
    Location:287358
    RRM_MTHFSD; RNA recognition motif (RRM) found in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:10187
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  6. XM_005256101.2XP_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
  7. XM_047434497.1XP_047290453.1  methenyltetrahydrofolate synthase domain-containing protein isoform X4

    Conserved Domains (2) summary
    cd12270
    Location:287358
    RRM_MTHFSD; RNA recognition motif (RRM) found in vertebrate methenyltetrahydrofolate synthetase domain-containing proteins
    cl00360
    Location:10187
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  8. XM_011523280.3XP_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
  9. XM_047434504.1XP_047290460.1  methenyltetrahydrofolate synthase domain-containing protein isoform X12

  10. XM_047434507.1XP_047290463.1  methenyltetrahydrofolate synthase domain-containing protein isoform X14

    UniProtKB/TrEMBL
    F5H0M7
  11. XM_047434503.1XP_047290459.1  methenyltetrahydrofolate synthase domain-containing protein isoform X11

  12. XM_047434500.1XP_047290456.1  methenyltetrahydrofolate synthase domain-containing protein isoform X5

  13. XM_011523282.3XP_011521584.1  methenyltetrahydrofolate synthase domain-containing protein isoform X6

    Conserved Domains (1) summary
    COG0212
    Location:10211
    FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]
  14. XM_047434501.1XP_047290457.1  methenyltetrahydrofolate synthase domain-containing protein isoform X9

    Related
    ENSP00000456652.2, ENST00000562940.6
  15. XM_047434502.1XP_047290458.1  methenyltetrahydrofolate synthase domain-containing protein isoform X10

  16. XM_047434505.1XP_047290461.1  methenyltetrahydrofolate synthase domain-containing protein isoform X13

    Related
    ENSP00000454807.1, ENST00000569000.5
  17. XM_011523284.3XP_011521586.1  methenyltetrahydrofolate synthase domain-containing protein isoform X8

    Conserved Domains (1) summary
    cl00360
    Location:10207
    5-FTHF_cyc-lig; 5-formyltetrahydrofolate cyclo-ligase family
  18. XM_011523283.3XP_011521585.1  methenyltetrahydrofolate synthase domain-containing protein isoform X7

    Conserved Domains (1) summary
    COG0212
    Location:10211
    FAU1; 5-formyltetrahydrofolate cyclo-ligase [Coenzyme transport and metabolism]
  19. XM_047434508.1XP_047290464.1  methenyltetrahydrofolate synthase domain-containing protein isoform X15

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    92598486..92623551 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)