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ACTMAP actin maturation protease [ Homo sapiens (human) ]

Gene ID: 284325, updated on 7-Apr-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
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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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