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

    Gene ID: 6494, updated on 10-Dec-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
    mouse all
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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
      UniProtKB/TrEMBL
      F6RY50

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

      UniProtKB/Swiss-Prot
      O14518, O60484, O60618, Q2YD83, Q96FS4
      UniProtKB/TrEMBL
      F6RY50

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

      UniProtKB/Swiss-Prot
      O14518, O60484, O60618, Q2YD83, Q96FS4
      UniProtKB/TrEMBL
      F6RY50

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

      UniProtKB/Swiss-Prot
      O14518, O60484, O60618, Q2YD83, Q96FS4
      UniProtKB/TrEMBL
      F6RY50

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

      UniProtKB/Swiss-Prot
      O14518, O60484, O60618, Q2YD83, Q96FS4
      UniProtKB/TrEMBL
      F6RY50

    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
      UniProtKB/TrEMBL
      F6RY50

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

      UniProtKB/Swiss-Prot
      O14518, O60484, O60618, Q2YD83, Q96FS4
      UniProtKB/TrEMBL
      F6RY50

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

      UniProtKB/Swiss-Prot
      O14518, O60484, O60618, Q2YD83, Q96FS4
      UniProtKB/TrEMBL
      F6RY50

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

      UniProtKB/Swiss-Prot
      O14518, O60484, O60618, Q2YD83, Q96FS4
      UniProtKB/TrEMBL
      F6RY50

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

      UniProtKB/Swiss-Prot
      O14518, O60484, O60618, Q2YD83, Q96FS4
      UniProtKB/TrEMBL
      F6RY50

    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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