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    SPHKAP SPHK1 interactor, AKAP domain containing [ Homo sapiens (human) ]

    Gene ID: 80309, updated on 3-Nov-2024

    Summary

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    Official Symbol
    SPHKAPprovided by HGNC
    Official Full Name
    SPHK1 interactor, AKAP domain containingprovided by HGNC
    Primary source
    HGNC:HGNC:30619
    See related
    Ensembl:ENSG00000153820 MIM:611646; AllianceGenome:HGNC:30619
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SKIP
    Summary
    Enables protein kinase A binding activity. Predicted to be located in Z disc. Predicted to be active in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in heart (RPKM 11.8), brain (RPKM 8.0) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See SPHKAP in Genome Data Viewer
    Location:
    2q36.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (227979955..228181687, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (228462353..228663979, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228844671..229046403, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene CRIPTO pseudogene 2 Neighboring gene dynein assembly factor with WD repeats 1 Neighboring gene uncharacterized LOC105373918 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:228894295-228894914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17204 Neighboring gene uncharacterized LOC107985993 Neighboring gene RNA, U6 small nuclear 624, pseudogene Neighboring gene SNF8 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:229290319-229291518 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:229372401-229373053 Neighboring gene long intergenic non-protein coding RNA 1807 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:229406198-229407397 Neighboring gene uncharacterized LOC105373921

    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 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. Repression of sphingosine kinase (SK)-interacting protein (SKIP) in acute myeloid leukemia diminishes SK activity and its re-expression restores SK function. Ghazaly EA, et al. J Biol Chem, 2020 Apr 17. PMID 32161116, Free PMC Article
    2. Activation of sphingosine kinase-1 mediates inhibition of vascular smooth muscle cell apoptosis by hyperglycemia. You B, et al. Diabetes, 2007 May. PMID 17325258
    3. Cloning and characterization of a protein kinase A anchoring protein (AKAP)-related protein that interacts with and regulates sphingosine kinase 1 activity. Lacaná E, et al. J Biol Chem, 2002 Sep 6. PMID 12080051
    4. Sphingosine kinase 1 (SPHK1) is induced by transforming growth factor-beta and mediates TIMP-1 up-regulation. Yamanaka M, et al. J Biol Chem, 2004 Dec 24. PMID 15485866
    5. [Molecular cloning and identify expression of the novel human LNX gene in gliomas]. Chen JX, et al. Zhonghua Yi Xue Za Zhi, 2005 Oct 12. PMID 16324299

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SphK1 Promotes Cancer Progression through Activating JAK/STAT Pathway and Up-Regulating S1PR1 Expression in Colon Cancer Cells.
      Title: SphK1 Promotes Cancer Progression through Activating JAK/STAT Pathway and Up-Regulating S1PR1 Expression in Colon Cancer Cells.
    2. Repression of sphingosine kinase (SK)-interacting protein (SKIP) in acute myeloid leukemia diminishes SK activity and its re-expression restores SK function.
      Title: Repression of sphingosine kinase (SK)-interacting protein (SKIP) in acute myeloid leukemia diminishes SK activity and its re-expression restores SK function.
    3. Results showed that DPP6, SPHKAP and ID4 were down regulated in acute myeloid leukemia (AML) patients.
      Title: Genome wide analysis of acute myeloid leukemia reveal leukemia specific methylome and subtype specific hypomethylation of repeats.
    4. SKIP is an entirely specific type I A-kinase anchoring protein that can sequester two molecules of protein kinase A at mitochondria.
      Title: An entirely specific type I A-kinase anchoring protein that can sequester two molecules of protein kinase A at mitochondria.
    5. sphingosine kinase type 1-interacting protein can be considered as the first mammalian A-kinase-anchoring proteins that preferentially binds to regulatory subunit 1 of cAMP-dependent protein kinase.
      Title: Sphingosine kinase interacting protein is an A-kinase anchoring protein specific for type I cAMP-dependent protein kinase.
    6. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    7. HIF-1 and HIF-2 have roles in SK1 upregulation during hypoxia in glioma cells
      Title: Sphingosine kinase 1 is up-regulated during hypoxia in U87MG glioma cells. Role of hypoxia-inducible factors 1 and 2.
    8. experiments demonstrate that sphingosine kinase 1/sphingosine-1-phosphate are important components of the transforming growth factor-beta signaling pathway involved in up-regulation of the tissue inhibitor of metalloproteinase-1 (TIMP-1)
      Title: Sphingosine kinase 1 (SPHK1) is induced by transforming growth factor-beta and mediates TIMP-1 up-regulation.
    9. cloning and characterization; results indicate that SKIP is a novel protein likely to play a regulatory role in the modulation of sphingosine kinase type 1 (SPHK1) activity
      Title: Cloning and characterization of a protein kinase A anchoring protein (AKAP)-related protein that interacts with and regulates sphingosine kinase 1 activity.
    10. Hyperglycemia stimulates SK1 activity via protein kinase C and oxidative stress-dependent pathways, leading to decreased apoptosis in vvascular smooth muscle.
      Title: Activation of sphingosine kinase-1 mediates inhibition of vascular smooth muscle cell apoptosis by hyperglycemia.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    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

    EBI GWAS Catalog

    Description
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1678, MGC132614, MGC132616, DKFZp781H143, DKFZp781J171

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase A binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    A-kinase anchor protein SPHKAP
    Names
    SPHK1 (sphingosine kinase type 1) interacting protein
    SPHK1-interactor and AKAP domain-containing protein
    sphingosine kinase type 1-interacting protein

    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_001142644.2 → NP_001136116.1  A-kinase anchor protein SPHKAP isoform 1

      See identical proteins and their annotated locations for NP_001136116.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AB051465, AC109825, AK095042, BC104956
      Consensus CDS
      CCDS46537.1
      UniProtKB/Swiss-Prot
      Q2M3C7, Q68DA3, Q68DR8, Q9C0I5
      Related
      ENSP00000375909.3, ENST00000392056.8
      Conserved Domains (1) summary
      cl14906
      Location:1597 → 1697
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    2. NM_030623.4 → NP_085126.2  A-kinase anchor protein SPHKAP isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region, compared to variant 1, and encodes a shorter isoform (2) than isoform 1.
      Source sequence(s)
      AB051465, AC109825, AK095042, AK127071, BC104954, CR749494
      Consensus CDS
      CCDS33389.1
      UniProtKB/Swiss-Prot
      Q2M3C7
      Related
      ENSP00000339886.5, ENST00000344657.5
      Conserved Domains (1) summary
      cl14906
      Location:1568 → 1668
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      227979955..228181687 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006712778.5 → XP_006712841.1  A-kinase anchor protein SPHKAP isoform X3

      Conserved Domains (1) summary
      cl14906
      Location:1593 → 1693
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    2. XM_006712777.4 → XP_006712840.1  A-kinase anchor protein SPHKAP isoform X1

      Conserved Domains (1) summary
      cl14906
      Location:1622 → 1722
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    3. XM_005246870.5 → XP_005246927.1  A-kinase anchor protein SPHKAP isoform X4

      Conserved Domains (1) summary
      cl14906
      Location:1580 → 1680
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    4. XM_011511925.3 → XP_011510227.1  A-kinase anchor protein SPHKAP isoform X2

      See identical proteins and their annotated locations for XP_011510227.1

      Conserved Domains (1) summary
      cl14906
      Location:1612 → 1712
      AKAP_110; A-kinase anchor protein 110 kDa (AKAP 110)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      228462353..228663979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344055.1 → XP_054200030.1  A-kinase anchor protein SPHKAP isoform X3

    2. XM_054344053.1 → XP_054200028.1  A-kinase anchor protein SPHKAP isoform X1

    3. XM_054344056.1 → XP_054200031.1  A-kinase anchor protein SPHKAP isoform X4

    4. XM_054344054.1 → XP_054200029.1  A-kinase anchor protein SPHKAP isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2M3C7.1 GenPept UniProtKB/Swiss-Prot:Q2M3C7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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