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    ACTMAP actin maturation protease [ Homo sapiens (human) ]

    Gene ID: 284325, updated on 25-May-2024

    Summary

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    Official Symbol
    ACTMAPprovided by HGNC
    Official Full Name
    actin maturation proteaseprovided by HGNC
    Primary source
    HGNC:HGNC:24758
    See related
    Ensembl:ENSG00000188493 MIM:620093; AllianceGenome:HGNC:24758
    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
    C19orf54
    Expression
    Ubiquitous expression in small intestine (RPKM 5.1), duodenum (RPKM 5.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ACTMAP in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (40740861..40750477, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (43561549..43571168, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (41246766..41256382, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene coenzyme Q8B Neighboring gene RNA, U6 small nuclear 195, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10644 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14663 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:41224841-41225542 Neighboring gene inositol-trisphosphate 3-kinase C Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41249947-41250913 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41250914-41251879 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41255833-41256458 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14665 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41257087-41257714 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:41257715-41258342 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14666 Neighboring gene small nuclear ribonucleoprotein polypeptide A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10647 Neighboring gene MIA-RAB4B readthrough (NMD candidate) Neighboring gene MIA SH3 domain containing

    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. Actin maturation requires the ACTMAP/C19orf54 protease. Haahr P, et al. Science, 2022 Sep 30. PMID 36173861
    2. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    3. ALS-linked loss of Cyclin-F function affects HSP90. Siebert A, et al. Life Sci Alliance, 2022 Sep 16. PMID 36114006, Free PMC Article
    4. PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling. Shami Shah A, et al. Cell Rep, 2019 May 14. PMID 31091453, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (10) 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

    • FLJ17063, FLJ41131, MGC103014

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type aminopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables initiator methionyl aminopeptidase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    actin maturation protease
    Names
    UPF0692 protein C19orf54
    actin aminopeptidase ACTMAP
    NP_001340734.1
    NP_001340735.1
    NP_001340736.1
    NP_001340737.1
    NP_001340738.1
    NP_940878.3
    XP_005258833.1
    XP_006723215.1
    XP_006723216.1
    XP_011525076.1
    XP_011525077.1
    XP_011525078.1
    XP_011525080.1
    XP_011525081.1
    XP_011525084.1
    XP_011525085.1
    XP_011525086.1
    XP_011525087.1
    XP_011525088.1
    XP_016882111.1
    XP_047294588.1
    XP_047294589.1
    XP_047294590.1
    XP_047294591.1
    XP_054176573.1
    XP_054176574.1
    XP_054176575.1
    XP_054176576.1
    XP_054176577.1
    XP_054176578.1
    XP_054176579.1
    XP_054176580.1
    XP_054176581.1
    XP_054176582.1
    XP_054176583.1
    XP_054176584.1
    XP_054176585.1
    XP_054176586.1
    XP_054176587.1
    XP_054176588.1
    XP_054176589.1
    XP_054176590.1
    XP_054176591.1

    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_001353805.2 → NP_001340734.1  actin maturation protease isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC020945, BC090894, DC399549

    2. NM_001353806.2 → NP_001340735.1  actin maturation protease isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC020945

    3. NM_001353807.2 → NP_001340736.1  actin maturation protease isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC020945

    4. NM_001353808.2 → NP_001340737.1  actin maturation protease isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC020945

    5. NM_001353809.2 → NP_001340738.1  actin maturation protease isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC020945

    6. NM_198476.5 → NP_940878.3  actin maturation protease isoform 1

      See identical proteins and their annotated locations for NP_940878.3

      Status: VALIDATED

      Source sequence(s)
      AC020945, AI250667, BC020262, DA073426
      Consensus CDS
      CCDS12564.2
      UniProtKB/Swiss-Prot
      A8MSZ5, B4DNU7, Q5BKX5
      Related
      ENSP00000367564.2, ENST00000378313.7

    RNA

    1. NR_148548.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AI250667, AK123126
      Related
      ENST00000469741.6

    2. NR_148549.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC020945
      Related
      ENST00000470681.5

    3. NR_148550.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC020945

    4. NR_148551.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC020945

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      40740861..40750477 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011526785.4 → XP_011525087.1  actin maturation protease isoform X13

    2. XM_011526784.4 → XP_011525086.1  actin maturation protease isoform X11

    3. XM_011526783.4 → XP_011525085.1  actin maturation protease isoform X10

    4. XM_047438635.1 → XP_047294591.1  actin maturation protease isoform X15

    5. XM_017026622.3 → XP_016882111.1  actin maturation protease isoform X12

    6. XM_011526786.4 → XP_011525088.1  actin maturation protease isoform X14

    7. XM_047438633.1 → XP_047294589.1  actin maturation protease isoform X4

    8. XM_011526778.4 → XP_011525080.1  actin maturation protease isoform X5

    9. XM_011526776.4 → XP_011525078.1  actin maturation protease isoform X2

    10. XM_005258776.6 → XP_005258833.1  actin maturation protease isoform X8

      See identical proteins and their annotated locations for XP_005258833.1

    11. XM_011526779.4 → XP_011525081.1  actin maturation protease isoform X6

    12. XM_047438634.1 → XP_047294590.1  actin maturation protease isoform X7

    13. XM_047438632.1 → XP_047294588.1  actin maturation protease isoform X3

    14. XM_011526775.3 → XP_011525077.1  actin maturation protease isoform X1

      See identical proteins and their annotated locations for XP_011525077.1

    15. XM_011526774.4 → XP_011525076.1  actin maturation protease isoform X1

      See identical proteins and their annotated locations for XP_011525076.1

    16. XM_006723153.4 → XP_006723216.1  actin maturation protease isoform X8

      See identical proteins and their annotated locations for XP_006723216.1

    17. XM_011526782.4 → XP_011525084.1  actin maturation protease isoform X9

    18. XM_006723152.4 → XP_006723215.1  actin maturation protease isoform X8

      See identical proteins and their annotated locations for XP_006723215.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      43561549..43571168 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320615.1 → XP_054176590.1  actin maturation protease isoform X16

    2. XM_054320613.1 → XP_054176588.1  actin maturation protease isoform X13

    3. XM_054320611.1 → XP_054176586.1  actin maturation protease isoform X11

    4. XM_054320610.1 → XP_054176585.1  actin maturation protease isoform X10

    5. XM_054320614.1 → XP_054176589.1  actin maturation protease isoform X14

    6. XM_054320603.1 → XP_054176578.1  actin maturation protease isoform X5

    7. XM_054320600.1 → XP_054176575.1  actin maturation protease isoform X2

    8. XM_054320605.1 → XP_054176580.1  actin maturation protease isoform X7

    9. XM_054320601.1 → XP_054176576.1  actin maturation protease isoform X3

    10. XM_054320598.1 → XP_054176573.1  actin maturation protease isoform X1

    11. XM_054320616.1 → XP_054176591.1  actin maturation protease isoform X15

    12. XM_054320612.1 → XP_054176587.1  actin maturation protease isoform X12

    13. XM_054320602.1 → XP_054176577.1  actin maturation protease isoform X4

    14. XM_054320606.1 → XP_054176581.1  actin maturation protease isoform X8

    15. XM_054320604.1 → XP_054176579.1  actin maturation protease isoform X6

    16. XM_054320599.1 → XP_054176574.1  actin maturation protease isoform X1

    17. XM_054320608.1 → XP_054176583.1  actin maturation protease isoform X8

    18. XM_054320609.1 → XP_054176584.1  actin maturation protease isoform X9

    19. XM_054320607.1 → XP_054176582.1  actin maturation protease isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5BKX5.2 GenPept UniProtKB/Swiss-Prot:Q5BKX5

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