SUSD1 - sushi domain containing 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64420

About SUSD1

This gene has 10 transcripts (splice variants) and 193 orthologues. Ubiquitous expression in placenta (RPKM 5.9), urinary bladder (RPKM 5.8) and 25 other tissues.

Summary

Predicted to enable calcium ion binding activity. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

SUSD1 Products (3)

mRNA Protein Name
NM_001282640.2 NP_001269569.1 sushi domain-containing protein 1 isoform 1 precursor
NM_001282643.2 NP_001269572.1 sushi domain-containing protein 1 isoform 3 precursor
NM_022486.5 NP_071931.2 sushi domain-containing protein 1 isoform 2 precursor

SUSD1 Protein Structure

EGF_CA

EGF_CA: Calcium-binding EGF domain (73 - 112)

EGF_CA

EGF_CA: Calcium-binding EGF domain (125 - 160)

Sushi

Sushi: Sushi repeat (SCR repeat) (179 - 234)

Sushi

Sushi: Sushi repeat (SCR repeat) (239 - 294)

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

sushi domain-containing protein 1

Related Diseases

Diseases Alias
Seckel Syndrome 1
  • SCKL1

  • Nanocephalic Dwarfism

  • Microcephalic Primordial Dwarfism I

  • Seckel-Type Dwarfism

  • Bird-Headed Dwarfism

  • Sckl

  • Seckel Syndrome, Type 1

  • Seckel Syndrome

Carpenter Syndrome 1
  • Carpenter Syndrome

  • Acrocephalopolysyndactyly Type Ii

  • Acps Ii

  • CRPT1

  • Acrocephalopolysyndactyly Type 2

  • Acrocephalosyndactyly, Type Ii

  • Acrocephalopolysyndactyly 2

  • Acps2

  • Acps 2

  • Type Ii Acrocephalosyndactyly

  • Carpenter Syndrome, Type 1

  • Apert-Crouzon Disease

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 SUSD1 VGNC VGNC:46997
Bos taurus SUSD1 VGNC VGNC:35486
Rattus norvegicus SUSD1 RGD RGD:1306966
Felis catus SUSD1 VGNC VGNC:65853
Macaca mulatta SUSD1 VGNC VGNC:78207
Mus musculus SUSD1 MGD MGI:3651543