1. Gene
  2. SMURF1 - SMAD specific E3 ubiquitin protein ligase 1 Gene

SMURF1 - SMAD specific E3 ubiquitin protein ligase 1 Gene

Homo sapiens
Gene ID: 57154 | Gene type: protein coding

About SMURF1

Cytogenetic location: 7q22.1 Genomic coordinates (GRCh38): 7:99,027,440-99,144,108 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 206 orthologues and 24 paralogues. Ubiquitous expression in testis (RPKM 21.9), stomach (RPKM 11.7) and 25 other tissues.

Summary

This gene encodes a ubiquitin Ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]

SMURF1 Products(3)

mRNA Protein Name
NM_001199847.2 NP_001186776.1 E3 ubiquitin-protein ligase SMURF1 isoform 3
NM_020429.3 NP_065162.1 E3 ubiquitin-protein ligase SMURF1 isoform 1
NM_181349.3 NP_851994.1 E3 ubiquitin-protein ligase SMURF1 isoform 2

SMURF1 Protein Structure

C2

C2: C2 domain (16 - 97)

WW

WW: WW domain (236 - 265)

WW

WW: WW domain (308 - 337)

HECT

HECT: HECT-domain (ubiquitin-transferase) (449 - 756)

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  • 757 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase SMURF1

E3 ubiquitin ligase SMURF1

Related Diseases

Diseases Alias
Geotrichosis
Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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
Macaca mulatta SMURF1 VGNC VGNC:77726
Rattus norvegicus SMURF1 RGD RGD:1594738
Mus musculus SMURF1 MGD MGI:1923038
Felis catus SMURF1 VGNC VGNC:65510
Bos taurus SMURF1 VGNC VGNC:35040
Canis familiaris SMURF1 VGNC VGNC:46580