1. Gene
  2. SMAP1 - small ArfGAP 1 Gene

SMAP1 - small ArfGAP 1 Gene

Homo sapiens

Also known as SMAP-1

Gene ID: 60682 | Gene type: protein coding

About SMAP1

Cytogenetic location: 6q13 Genomic coordinates (GRCh38): 6:70,667,883-70,862,015 (from NCBI)

This gene has 6 transcripts (splice variants), 252 orthologues and 28 paralogues. Ubiquitous expression in brain (RPKM 17.8), esophagus (RPKM 10.4) and 25 other tissues.

Summary

The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

SMAP1 Products(4)

mRNA Protein Name
NM_001044305.3 NP_001037770.1 stromal membrane-associated protein 1 isoform A
NM_001281439.2 NP_001268368.1 stromal membrane-associated protein 1 isoform C
NM_001281440.1 NP_001268369.1 stromal membrane-associated protein 1 isoform D
NM_021940.5 NP_068759.2 stromal membrane-associated protein 1 isoform B
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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

SMAP1 Protein Structure

ArfGap

ArfGap: Putative GTPase activating protein for Arf (20 - 131)

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

stromal membrane-associated protein 1

stromal membrane-associated GTPase-activating protein 1

Related Diseases

Diseases Alias
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

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Mus musculus SMAP1 MGD MGI:2138261
Rattus norvegicus SMAP1 RGD RGD:1585595
Bos taurus SMAP1 VGNC VGNC:34983
Canis familiaris SMAP1 VGNC VGNC:46527
Felis catus SMAP1 VGNC VGNC:102520