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

Gene ID: 389119, updated on 7-Sep-2023

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 be involved in negative regulation of catalytic activity. Predicted to act upstream of or within neural tube development. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49803261..49805030)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49833138..49834907)
105.20220307 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 cadherin related family member 4 Neighboring gene Sharpr-MPRA regulatory region 10954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49844839-49845735 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:49848893-49849392 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)

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

  • 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
 PubMed 
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
 PubMed 
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
 PubMed 
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_2023_03

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

Gene LinkOut

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

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