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    INKA1 inka box actin regulator 1 [ Homo sapiens (human) ]

    Gene ID: 389119, updated on 10-Dec-2024

    Summary

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    Official Symbol
    INKA1provided by HGNC
    Official Full Name
    inka box actin regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:32480
    See related
    Ensembl:ENSG00000185614 MIM:620426; AllianceGenome:HGNC:32480
    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
    INCA; C3orf54; FAM212A
    Summary
    Enables protein kinase binding activity and protein serine/threonine kinase inhibitor activity. Predicted to act upstream of or within neural tube development. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in skin (RPKM 6.6), lung (RPKM 3.2) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INKA1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49803261..49805030)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49833138..49834907)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49840694..49842463)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene inositol hexakisphosphate kinase 1 Neighboring gene PHF5A pseudogene 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49823653-49824342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19875 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49824674-49824838 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49825619-49825828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14374 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14375 Neighboring gene cadherin related family member 4 Neighboring gene Sharpr-MPRA regulatory region 10954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49844839-49845735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49848893-49849392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19880 Neighboring gene microRNA 5193 Neighboring gene ubiquitin like modifier activating enzyme 7 Neighboring gene TRAF interacting protein

    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. A stemness screen reveals C3orf54/INKA1 as a promoter of human leukemia stem cell latency. Kaufmann KB, et al. Blood, 2019 May 16. PMID 30796022
    2. Generation and characterization of a novel neural crest marker allele, Inka1-LacZ, reveals a role for Inka1 in mouse neural tube closure. Reid BS, et al. Dev Dyn, 2010 Apr. PMID 20175189, Free PMC Article
    3. An in cellulo-derived structure of PAK4 in complex with its inhibitor Inka1. Baskaran Y, et al. Nat Commun, 2015 Nov 26. PMID 26607847, Free PMC Article
    4. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    5. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC20416

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein serine/threonine kinase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein serine/threonine kinase inhibitor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PAK4-inhibitor INKA1
    Names
    HInca
    Induced in Neural Crest by AP-2alpha
    family with sequence similarity 212 member A
    induced in neural crest by AP2-alpha protein homolog
    protein FAM212A

    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_001366281.1 → NP_001353210.1  PAK4-inhibitor INKA1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC139451
      UniProtKB/Swiss-Prot
      Q96EL1
      Conserved Domains (1) summary
      pfam15342
      Location:138 → 177
      FAM212; FAM212 family

    2. NM_203370.2 → NP_976248.2  PAK4-inhibitor INKA1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      BC012170
      Consensus CDS
      CCDS2804.2
      UniProtKB/Swiss-Prot
      Q96EL1
      UniProtKB/TrEMBL
      A0A499FIG1
      Related
      ENSP00000329735.5, ENST00000333323.6
      Conserved Domains (1) summary
      pfam15342
      Location:165 → 204
      FAM212; FAM212 family

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49803261..49805030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49833138..49834907
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96EL1.2 GenPept UniProtKB/Swiss-Prot:Q96EL1

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