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SMAP1 small ArfGAP 1 [ Homo sapiens (human) ]

Gene ID: 60682, updated on 9-Dec-2018

Summary

Official Symbol
SMAP1provided by HGNC
Official Full Name
small ArfGAP 1provided by HGNC
Primary source
HGNC:HGNC:19651
See related
Ensembl:ENSG00000112305 MIM:611372
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SMAP-1
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]
Expression
Ubiquitous expression in brain (RPKM 17.8), esophagus (RPKM 10.4) and 25 other tissues See more
Orthologs

Genomic context

See SMAP1 in Genome Data Viewer
Location:
6q13
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (70667771..70862015)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (71377474..71571718)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene spermine synthase pseudogene Neighboring gene solute carrier family 25 member 6 pseudogene 6 Neighboring gene transmembrane protein 192 pseudogene Neighboring gene uncharacterized LOC105377850 Neighboring gene beta-1,3-glucuronyltransferase 2 Neighboring gene beclin 1 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of small ArfGAP 1 (SMAP1) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

  • Endocytosis, organism-specific biosystem (from KEGG)
    Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
  • Endocytosis, conserved biosystem (from KEGG)
    Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13159, FLJ42245

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
clathrin binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of clathrin-dependent endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
stromal membrane-associated protein 1
Names
stromal membrane-associated GTPase-activating protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001044305.2NP_001037770.1  stromal membrane-associated protein 1 isoform A

    See identical proteins and their annotated locations for NP_001037770.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (A).
    Source sequence(s)
    AF442495, BC036123, DB480952
    Consensus CDS
    CCDS43478.1
    UniProtKB/Swiss-Prot
    Q8IYB5
    Related
    ENSP00000359484.3, ENST00000370455.7
    Conserved Domains (1) summary
    pfam01412
    Location:20120
    ArfGap; Putative GTPase activating protein for Arf
  2. NM_001281439.1NP_001268368.1  stromal membrane-associated protein 1 isoform C

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform C) has a distinct C-terminus and is shorter than isoform A.
    Source sequence(s)
    AF442495, AK023221, AL121961, BC008672, BC036123, DB480952
    Consensus CDS
    CCDS64459.1
    UniProtKB/Swiss-Prot
    Q8IYB5
    Related
    ENSP00000359481.3, ENST00000370452.7
    Conserved Domains (1) summary
    pfam01412
    Location:20120
    ArfGap; Putative GTPase activating protein for Arf
  3. NM_001281440.1NP_001268369.1  stromal membrane-associated protein 1 isoform D

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (D) has a distinct N-terminus and is shorter than isoform A.
    Source sequence(s)
    AF442495, AK307807, BC036123, DA527013
    Consensus CDS
    CCDS75478.1
    UniProtKB/Swiss-Prot
    Q8IYB5
    UniProtKB/TrEMBL
    A0A087X1X9
    Related
    ENSP00000484538.1, ENST00000619054.4
    Conserved Domains (1) summary
    pfam01412
    Location:30110
    ArfGap; Putative GTPase activating protein for Arf
  4. NM_021940.4NP_068759.2  stromal membrane-associated protein 1 isoform B

    See identical proteins and their annotated locations for NP_068759.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform B), compared to isoform A.
    Source sequence(s)
    AF442495, BC036123, DB480952
    Consensus CDS
    CCDS4973.1
    UniProtKB/Swiss-Prot
    Q8IYB5
    Related
    ENSP00000313382.5, ENST00000316999.9
    Conserved Domains (2) summary
    pfam01412
    Location:20120
    ArfGap; Putative GTPase activating protein for Arf
    pfam09606
    Location:283431
    Med15; ARC105 or Med15 subunit of Mediator complex non-fungal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    70667771..70862015
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536045.3XP_011534347.1  stromal membrane-associated protein 1 isoform X1

    Conserved Domains (1) summary
    pfam01412
    Location:20120
    ArfGap; Putative GTPase activating protein for Arf
  2. XM_011536047.3XP_011534349.1  stromal membrane-associated protein 1 isoform X3

    Conserved Domains (1) summary
    pfam01412
    Location:20120
    ArfGap; Putative GTPase activating protein for Arf
  3. XM_005248760.5XP_005248817.1  stromal membrane-associated protein 1 isoform X5

    Conserved Domains (1) summary
    pfam01412
    Location:20120
    ArfGap; Putative GTPase activating protein for Arf
  4. XM_017011170.1XP_016866659.1  stromal membrane-associated protein 1 isoform X4

    Conserved Domains (1) summary
    cl02464
    Location:135
    ArfGap; Putative GTPase activating protein for Arf
  5. XM_011536048.2XP_011534350.1  stromal membrane-associated protein 1 isoform X4

    Conserved Domains (1) summary
    cl02464
    Location:135
    ArfGap; Putative GTPase activating protein for Arf
  6. XM_011536046.3XP_011534348.1  stromal membrane-associated protein 1 isoform X2

    Conserved Domains (1) summary
    pfam01412
    Location:1193
    ArfGap; Putative GTPase activating protein for Arf
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