2. Gene
  3. RSPRY1 - ring finger and SPRY domain containing 1 Gene

RSPRY1 - ring finger and SPRY domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SEMDFA

Gene ID: 89970 | Gene type: protein coding

About RSPRY1

Cytogenetic location: 16q13 Genomic coordinates (GRCh38): 16:57,186,152-57,240,469 (from NCBI)

This gene has 12 transcripts (splice variants), 206 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 11.4), thyroid (RPKM 9.4) and 25 other tissues.

Summary

This gene encodes a glycoprotein that contains a RING-type zinc finger domain and an SPRY domain of unknown function. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]

RSPRY1 Products(4)

mRNA Protein Name
NM_001305163.2 NP_001292092.1 RING finger and SPRY domain-containing protein 1 isoform 1 precursor
NM_001305164.2 NP_001292093.1 RING finger and SPRY domain-containing protein 1 isoform 1 precursor
NM_001305182.2 NP_001292111.1 RING finger and SPRY domain-containing protein 1 isoform 2 precursor
NM_133368.3 NP_588609.1 RING finger and SPRY domain-containing protein 1 isoform 1 precursor

RSPRY1 Protein Structure

SPRY

SPRY: SPRY domain (359 - 481)

zf-C3HC4_3

zf-C3HC4_3: Zinc finger, C3HC4 type (RING finger) (524 - 566)

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  • 576 a.a.
Protein Preferred Names Protein Names

RING finger and SPRY domain-containing protein 1

Related Diseases

Diseases Alias
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type

Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome

SEMDFA

Spondyloepimetaphyseal Dysplasia, Progressive, With Short Stature, Facial Dysmorphism, Short Fourth Metatarsals, And Mental Retardation, With Or Without Craniosynostosis
Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal
Fibrochondrogenesis 1

FBCG1

Fibrochondrogenesis, Type 1
Brachydactyly
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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS12309 RSPRY1 Human Pre-designed siRNA Set A / Unkown

Orthologs Information

Species Symbol Source ID
Rattus norvegicus RSPRY1 RGD RGD:1308847
Felis catus RSPRY1 VGNC VGNC:64800
Macaca mulatta RSPRY1 VGNC VGNC:77126
Canis familiaris RSPRY1 VGNC VGNC:45785
Mus musculus RSPRY1 MGD MGI:1914860
Bos taurus RSPRY1 VGNC VGNC:34191