MANSC1 - MANSC domain containing 1 Gene

Also Known as LOH12CR3; 9130403P13Rik

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54682

About MANSC1

This gene has 4 transcripts (splice variants), 1 gene allele, 115 orthologues and 2 paralogues. Ubiquitous expression in salivary gland (RPKM 15.1), esophagus (RPKM 14.1) and 25 other tissues.

Summary

Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

MANSC1 Products (2)

mRNA Protein Name
NM_001363613.2 NP_001350542.1 MANSC domain-containing protein 1 isoform 2
NM_018050.4 NP_060520.2 MANSC domain-containing protein 1 isoform 1 precursor

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MANSC1 Protein Structure

MANEC

MANEC: MANEC domain (25 - 117)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 431 a.a.
Protein Preferred Names Protein Names

MANSC domain-containing protein 1

  • loss of heterozygosity 12 chromosomal region 3 protein

Recombinant MANSC1 Proteins

Cat. No. Product Name Accession Purity
HY-P70165 MANSC1 Protein, Human (HEK293, His) AAH32998.1 (Q27-L385) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Temtamy Syndrome

  • TEMTYS

  • Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation

  • Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome

  • Dysmorphism, Corpus Callosum Agenesis And Colobomas

  • Temtamy-Shalash Syndrome

  • Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum
Autosomal Dominant Intellectual Developmental Disorder 6

  • Autosomal Dominant Non-Syndromic Intellectual Disability 6

  • Autosomal Dominant Mental Retardation 6

  • Mrd6

  • Mental Retardation, Autosomal Dominant, Type 6

  • Mental Retardation, Autosomal Dominant 6
Cantu Syndrome

  • Hypertrichotic Osteochondrodysplasia

  • Hypertrichotic Osteochondrodysplasia Cantu Type

  • Cantú Syndrome

  • Craniofaciocardioskeletal Syndrome

  • Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

  • Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

  • Congenital Hypertrichosis-Coarse Facial Features Spectrum

  • HTOCD

  • Osteochondrodysplasia, Hypertrichotic
Sotos Syndrome 1

  • Sotos1

  • Sotos Syndrome, Type 1

  • Sotos' Syndrome
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08018 MANSC1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS19066 Mansc1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS25556 Mansc1 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus MANSC1 VGNC VGNC:31172
Rattus norvegicus MANSC1 RGD RGD:1593458
Macaca mulatta MANSC1 VGNC VGNC:74358
Mus musculus MANSC1 MGD MGI:1914979
Canis familiaris MANSC1 VGNC VGNC:42952
Others MANSC1 NCBI