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SIPA1 signal-induced proliferation-associated 1 [ Homo sapiens (human) ]

Gene ID: 6494, updated on 27-Nov-2024

Summary

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Official Symbol
SIPA1provided by HGNC
Official Full Name
signal-induced proliferation-associated 1provided by HGNC
Primary source
HGNC:HGNC:10885
See related
Ensembl:ENSG00000213445 MIM:602180; AllianceGenome:HGNC:10885
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
SPA1
Summary
The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]
Expression
Broad expression in spleen (RPKM 30.1), lymph node (RPKM 17.9) and 24 other tissues See more
Orthologs
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Genomic context

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See SIPA1 in Genome Data Viewer
Location:
11q13.1
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (65638101..65650912)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (65632271..65645082)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65405572..65418383)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3544 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65380127-65381014 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:65381903-65382789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3546 Neighboring gene pecanex 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65404393-65405183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4997 Neighboring gene microRNA 4690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4998 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4999 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65421552-65422052 Neighboring gene microRNA 4489 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3549 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5000 Neighboring gene RELA proto-oncogene, NF-kB subunit Neighboring gene RELA divergent transcript Neighboring gene RNA, 7SL, cytoplasmic 309, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Spa-1 regulates the maintenance and differentiation of human embryonic stem cells. Lee YJ, et al. Int J Dev Biol, 2008. PMID 18033671
  2. SIPA1 promotes invasion and migration in human oral squamous cell carcinoma by ITGB1 and MMP7. Takahara T, et al. Exp Cell Res, 2017 Mar 15. PMID 28237246
  3. The SIPA1 -313A>G polymorphism is associated with prognosis in inoperable non-small cell lung cancer. Gdowicz-Kłosok A, et al. Tumour Biol, 2015 Feb. PMID 25352027
  4. Nuclear SIPA1 activates integrin β1 promoter and promotes invasion of breast cancer cells. Zhang Y, et al. Oncogene, 2015 Mar 12. PMID 24704834
  5. The association of SIPA1 gene polymorphisms with breast cancer risk: evidence from published studies. Yi SM, et al. Tumour Biol, 2014 Jan. PMID 24006220

See all (61) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel transcription factor SIPA1: identification and verification in triple-negative breast cancer.
    Title: A novel transcription factor SIPA1: identification and verification in triple-negative breast cancer.
  2. SIPA1 enhances SMAD2/3 expression to maintain stem cell features in breast cancer cells.
    Title: SIPA1 enhances SMAD2/3 expression to maintain stem cell features in breast cancer cells.
  3. A novel nuclear localization region in SIPA1 determines protein nuclear distribution and epirubicin-sensitivity of breast cancer cells.
    Title: A novel nuclear localization region in SIPA1 determines protein nuclear distribution and epirubicin-sensitivity of breast cancer cells.
  4. SIPA1 promotes oral squamous cell carcinoma metastasis by regulating the ITGB1 and MMP7.
    Title: SIPA1 promotes invasion and migration in human oral squamous cell carcinoma by ITGB1 and MMP7.
  5. Study shows that SIPA1 mRNA and protein expression are down-regulated in gastric cancer cells and correlate with tumor grading, invasion and lymph node metastasis as well as higher expression of VEGFA. Low SIPA1 levels in gastric cancer may then accelerate tumor development and progression by promoting VEGFA expression to increase vascular density.
    Title: Dynamic relationship between SIPA1 gene and protein expression and the development of gastric cancer.
  6. results suggest that SIPA1 and RRP1B germline polymorphisms are important for breast cancer prognosis
    Title: The contribution of SIPA1 and RRP1B germline polymorphisms to breast cancer phenotype, lymph node status and survival in a group of Lithuanian young breast cancer patients.
  7. Our results indicate, for the first time, that the SIPA1 -313A>G may have a prognostic role in unresected NSCLC making it a potential predictor of poor survival due to earlier progression.
    Title: The SIPA1 -313A>G polymorphism is associated with prognosis in inoperable non-small cell lung cancer.
  8. nuclear SIPA1 contributes to breast cancer cell invasion through the regulation of integrin beta1 signaling.
    Title: Nuclear SIPA1 activates integrin β1 promoter and promotes invasion of breast cancer cells.
  9. BRD4 short isoform interacts with RRP1B, SIPA1 and components of the LINC complex at the inner face of the nuclear membrane.
    Title: BRD4 short isoform interacts with RRP1B, SIPA1 and components of the LINC complex at the inner face of the nuclear membrane.
  10. This meta-analysis suggests that rs746429 is associated with the risk of breast cancer.
    Title: The association of SIPA1 gene polymorphisms with breast cancer risk: evidence from published studies.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC17037, MGC102688

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity EXP
Inferred from Experiment
more info
 PubMed 
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables GTPase activator activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in adaptive immune response TAS
Traceable Author Statement
more info
  
involved_in cellular response to water deprivation IEA
Inferred from Electronic Annotation
more info
  
involved_in cytoskeleton organization NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in intracellular signal transduction NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cell adhesion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cell cycle NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of cell growth NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
part_of protein-containing complex IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
signal-induced proliferation-associated protein 1
Names
GTPase-activating protein Spa-1
p130 SPA-1
signal-induced proliferation-associated gene 1
sipa-1

NCBI Reference Sequences (RefSeq)

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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_006747.4 → NP_006738.3  signal-induced proliferation-associated protein 1

    See identical proteins and their annotated locations for NP_006738.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AP001362
    Consensus CDS
    CCDS8108.1
    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4
    UniProtKB/TrEMBL
    F6RY50
    Related
    ENSP00000436269.1, ENST00000534313.6
    Conserved Domains (4) summary
    COG1196
    Location:905 → 1027
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam00595
    Location:687 → 759
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam02145
    Location:351 → 532
    Rap_GAP; Rap/ran-GAP
    pfam06005
    Location:974 → 1030
    ZapB; Cell division protein ZapB

  2. NM_153253.30 → NP_694985.29  signal-induced proliferation-associated protein 1

    See identical proteins and their annotated locations for NP_694985.29

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AP001362
    Consensus CDS
    CCDS8108.1
    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4
    UniProtKB/TrEMBL
    F6RY50
    Related
    ENSP00000377771.3, ENST00000394224.3
    Conserved Domains (4) summary
    COG1196
    Location:905 → 1027
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam00595
    Location:687 → 759
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam02145
    Location:351 → 532
    Rap_GAP; Rap/ran-GAP
    pfam06005
    Location:974 → 1030
    ZapB; Cell division protein ZapB

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    65638101..65650912
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427428.1 → XP_047283384.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  2. XM_047427430.1 → XP_047283386.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  3. XM_047427429.1 → XP_047283385.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  4. XM_047427427.1 → XP_047283383.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  5. XM_047427431.1 → XP_047283387.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  6. XM_005274189.3 → XP_005274246.1  signal-induced proliferation-associated protein 1 isoform X1

    See identical proteins and their annotated locations for XP_005274246.1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4
    UniProtKB/TrEMBL
    F6RY50
    Related
    ENSP00000433686.1, ENST00000527525.5
    Conserved Domains (4) summary
    COG1196
    Location:905 → 1027
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam00595
    Location:687 → 759
    PDZ; PDZ domain (Also known as DHR or GLGF)
    pfam02145
    Location:351 → 532
    Rap_GAP; Rap/ran-GAP
    pfam06005
    Location:974 → 1030
    ZapB; Cell division protein ZapB

  7. XM_047427432.1 → XP_047283388.1  signal-induced proliferation-associated protein 1 isoform X2

  8. XM_047427434.1 → XP_047283390.1  signal-induced proliferation-associated protein 1 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    65632271..65645082
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369662.1 → XP_054225637.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  2. XM_054369666.1 → XP_054225641.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  3. XM_054369663.1 → XP_054225638.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  4. XM_054369665.1 → XP_054225640.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  5. XM_054369664.1 → XP_054225639.1  signal-induced proliferation-associated protein 1 isoform X1

    UniProtKB/Swiss-Prot
    O14518, O60484, O60618, Q2YD83, Q96FS4

  6. XM_054369667.1 → XP_054225642.1  signal-induced proliferation-associated protein 1 isoform X2

  7. XM_054369668.1 → XP_054225643.1  signal-induced proliferation-associated protein 1 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96FS4.1 GenPept UniProtKB/Swiss-Prot:Q96FS4

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