1. Gene
  2. SAMD11 - sterile alpha motif domain containing 11 Gene

SAMD11 - sterile alpha motif domain containing 11 Gene

Homo sapiens

Also known as MRS

Gene ID: 148398 | Gene type: protein coding

About SAMD11

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:923,923-944,574 (from NCBI)

This gene has 15 transcripts (splice variants), 199 orthologues, 18 paralogues and is associated with 1 phenotype. Ubiquitous expression in prostate (RPKM 7.4), endometrium (RPKM 5.9) and 25 other tissues.

Summary

Predicted to enable several functions, including histone binding activity; protein domain specific binding activity; and protein self-association. Predicted to be involved in negative regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

SAMD11 Products(3)

mRNA Protein Name
NM_001385640.1 NP_001372569.1 sterile alpha motif domain-containing protein 11 isoform 2
NM_001385641.1 NP_001372570.1 sterile alpha motif domain-containing protein 11 isoform 1
NM_152486.4 NP_689699.3 sterile alpha motif domain-containing protein 11 isoform 3

SAMD11 Protein Structure

SAM_2

SAM_2: SAM domain (Sterile alpha motif) (543 - 597)

  • 0
  • 200
  • 400
  • 600
  • 681 a.a.
Protein Preferred Names Protein Names

sterile alpha motif domain-containing protein 11

SAM domain-containing protein 11

Related Diseases

Diseases Alias
Chronic Intestinal Vascular Insufficiency

Chronic Mesenteric Ischemia

Cmi - Chronic Mesenteric Ischaemia

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

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
Canis familiaris SAMD11 VGNC VGNC:45849
Bos taurus SAMD11 VGNC VGNC:59361
Felis catus SAMD11 VGNC VGNC:64861
Rattus norvegicus SAMD11 RGD RGD:1310271
Mus musculus SAMD11 MGD MGI:2446220