1. Gene
  2. MTHFSD - methenyltetrahydrofolate synthetase domain containing Gene

MTHFSD - methenyltetrahydrofolate synthetase domain containing Gene

Homo sapiens
Gene ID: 64779 | Gene type: protein coding

About MTHFSD

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:86,530,186-86,555,235 (from NCBI)

This gene has 20 transcripts (splice variants) and 205 orthologues. Ubiquitous expression in testis (RPKM 3.7), prostate (RPKM 2.2) and 25 other tissues.

Summary

Enables RNA binding activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]

MTHFSD Products(5)

mRNA Protein Name
NM_001159377.2 NP_001152849.1 methenyltetrahydrofolate synthase domain-containing protein isoform 1
NM_001159378.2 NP_001152850.1 methenyltetrahydrofolate synthase domain-containing protein isoform 2
NM_001159379.2 NP_001152851.1 methenyltetrahydrofolate synthase domain-containing protein isoform 4
NM_001159380.2 NP_001152852.1 methenyltetrahydrofolate synthase domain-containing protein isoform 5
NM_022764.3 NP_073601.2 methenyltetrahydrofolate synthase domain-containing protein isoform 3

MTHFSD Protein Structure

5-FTHF_cyc-lig

5-FTHF_cyc-lig: 5-formyltetrahydrofolate cyclo-ligase family (10 - 207)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (308 - 372)

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  • 383 a.a.
Protein Preferred Names Protein Names

methenyltetrahydrofolate synthase domain-containing protein

methenyltetrahydrofolate synthetase domain-containing protein

Related Diseases

Diseases Alias
Pancreas, Annular

Annular Pancreas

Pancreas Annulare

Congenital Annular Pancreas

Microphthalmia, Syndromic 3

MCOPS3

Aeg Syndrome

Microphthalmia And Esophageal Atresia Syndrome

Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome

Anophthalmia-Esophageal-Genital Syndrome

Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System

Syndromic Microphthalmia 3

Sox2 Anophthalmia Syndrome

Anophthalmia Clinical With Associated Anomalies

Anophthalmia Esophageal Genital Syndrome

Anophthalmia Microphthalmia Esophageal Atresia

Syndromic Microphthalmia Type 3

Sox2-Related Eye Disorders

Anophthalmia, Clinical, With Associated Anomalies

Syndromic Microphthalmia, Type 3

Microphthalmia, Syndromic, 3

Anophthalmia/Microphthalmia-Esophageal Atresia

Microphthalmia Syndromic, Type 3

Vacterl Association

Vater Association

Vater Syndrome

Diphyllobothriasis

Diphyllobothrium Infection

Fish Tapeworm

Bothriocephalosis

Infection By Bothriocephalus

Fish Tapeworm Infection

Dibothriocephalus Anaemia

Dibothriocephaliasis

Broad Tapeworm Infection

Bothriocephaliasis

Dibothriocephalus

Intestinal Diphyllobothriasis

Diphyllobothrium Infestation

Dibothriocephalus Infestation

Bothriocephalus Infestation

Adult Diphyllobothrium Infection

Tapeworm Anaemia

Infection By Diphyllobothrium Larvae

Anus, Imperforate

Imperforate Anus

Anorectal Malformation

Anal Atresia

Anorectal Malformations

Congenital Atresia Of Anus

Congenital Or Infantile Occlusion Of Anus

Anal Stenosis

Arm

Bardet-Biedl Syndrome 6

BBS6

Bardet-Biedl Syndrome, Type 6

Feingold Syndrome 1

Feingold Syndrome

Oculodigitoesophagoduodenal Syndrome

Oded Syndrome

Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome

Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum

FGLDS1

Mmt Syndrome

Brunner-Winter Syndrome

Feingold Syndrome Type 1

Oded

Moded

Fglds

Microcephaly-Digital Anomalies-Normal Intelligence Syndrome

Moded Syndrome

Oculo-Digito-Esophageal-Duodenal Syndrome

Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome

Microcephaly And Digital Abnormalities With Normal Intelligence

Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus, Or Duodenum

Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome

Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome

Oculo-Digito-Esophagoduodental Syndrome

Fs

Mmt

Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome

Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome

Brunner-Winter Syndrome Type 1

Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Type 1

Fs1

Mmt Type 1

Moded Syndrome Type 1

Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1

Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1

Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1

Oded Syndrome Type 1

Oculo-Digito-Esophageal-Duodenal Syndrome Type 1

Feingold Syndrome, Type 1

Intestinal Atresia
Gastrointestinal Defects And Immunodeficiency Syndrome 1

Familial Intestinal Polyatresia Syndrome

Fipa

Gastrointestinal Defects And Immunodeficiency Syndrome

Multiple Gastrointestinal Atresias

Familial Isolated Pituitary Adenoma

Intestinal Atresia, Multiple

Multiple Intestinal Atresia

GIDID1

Multiple Intestinal Atresia And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Minat

Gidid

Meddra:10028210

Familial Isolated Pituitary Adenoma Syndrome

Intestinal Atresia Multiple

Combined Immunodeficiency-Enteropathy Spectrum

Cid-Mia/Early-Onset Ibd

Intestinal Atresia, Multiple And/Or Inflammatory Bowel Disease With Or Without Immunodeficiency

Mia

Gastrointestinal Defect And Immunodeficiency Syndrome

Pituitary Adenoma Predisposition

Pituitary Adenoma, Familial Isolated

Pallister-Hall Syndrome

PHS

Hypothalamic Hamartomas

Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly

Hypothalamic Hamartoblastoma Syndrome

Hamartoma Of The Hypothalamus

Pallister Hall Syndrome

Hall-Pallister Syndrome

Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly

Hamartoma, Hypothalamic

Anus Disease

Anal Fissure

Ulcer Of Anus

Anus Diseases

Anal Disease

Anal Fissure And Fistula

Anal Ulcer

Fissure In Ano

Nontraumatic Tear Of Anus

Solitary Anal Ulcer

Abnormality Of The Anus

Anal Disorders

Ulcer Of Anus And Rectum

Solitary Ulcer Of Anus

Stercoral Ulcer Of Anus

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus MTHFSD VGNC VGNC:31732
Mus musculus MTHFSD MGD MGI:2679252
Felis catus MTHFSD VGNC VGNC:63650
Canis familiaris MTHFSD VGNC VGNC:43474
Rattus norvegicus MTHFSD RGD RGD:1584226
Macaca mulatta MTHFSD VGNC VGNC:75023