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    C11orf54 chromosome 11 open reading frame 54 [ Homo sapiens (human) ]

    Gene ID: 28970, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C11orf54provided by HGNC
    Official Full Name
    chromosome 11 open reading frame 54provided by HGNC
    Primary source
    HGNC:HGNC:30204
    See related
    Ensembl:ENSG00000182919 MIM:615810; AllianceGenome:HGNC:30204
    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
    MEEP; PTD012; PTOD012
    Summary
    Enables hydrolase activity, acting on ester bonds and zinc ion binding activity. Located in nuclear body. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in kidney (RPKM 50.9), liver (RPKM 12.2) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C11orf54 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (93741672..93764749)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (93658054..93681124)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (93474838..93497915)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:93471084-93472283 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I subunit D Neighboring gene microRNA 1304 Neighboring gene small nucleolar RNA, H/ACA box 40 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5398 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:93474959-93475644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93476051-93476590 Neighboring gene Sharpr-MPRA regulatory region 5970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3840 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:93517986-93518180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:93519733-93520232 Neighboring gene mediator complex subunit 17 Neighboring gene uncharacterized LOC124902851 Neighboring gene small nucleolar RNA U13

    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. C11orf54 promotes DNA repair via blocking CMA-mediated degradation of HIF1A. Tan J, et al. Commun Biol, 2023 Jun 5. PMID 37277441, Free PMC Article
    2. Crystal structure of Homo sapiens PTD012 reveals a zinc-containing hydrolase fold. Manjasetty BA, et al. Protein Sci, 2006 Apr. PMID 16522806, Free PMC Article
    3. Large-scale cDNA transfection screening for genes related to cancer development and progression. Wan D, et al. Proc Natl Acad Sci U S A, 2004 Nov 2. PMID 15498874, Free PMC Article
    4. An empirical framework for binary interactome mapping. Venkatesan K, et al. Nat Methods, 2009 Jan. PMID 19060904, Free PMC Article
    5. Hepatitis B Virus HBx Protein Mediates the Degradation of Host Restriction Factors through the Cullin 4 DDB1 E3 Ubiquitin Ligase Complex. Minor MM, et al. Cells, 2020 Mar 30. PMID 32235678, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C11orf54 promotes DNA repair via blocking CMA-mediated degradation of HIF1A.
      Title: C11orf54 promotes DNA repair via blocking CMA-mediated degradation of HIF1A.
    Submit: New GeneRIF Correction

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hydrolase activity, acting on ester bonds IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydrolase activity, acting on ester bonds IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables zinc ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ester hydrolase C11orf54
    Names
    epididymis secretory sperm binding 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_001286067.2 → NP_001272996.1  ester hydrolase C11orf54 isoform a

      See identical proteins and their annotated locations for NP_001272996.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1-3 and 7-11 all encode the same isoform (a).
      Source sequence(s)
      AA864999, AK292215, AL708049, AP001273, BC012298
      Consensus CDS
      CCDS66204.1
      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Related
      ENSP00000435113.1, ENST00000528099.5
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    2. NM_001286068.2 → NP_001272997.1  ester hydrolase C11orf54 isoform a

      See identical proteins and their annotated locations for NP_001272997.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon and uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1-3 and 7-11 all encode the same isoform (a).
      Source sequence(s)
      AA864999, AK225977, AK292215, AP001273, BC012298
      Consensus CDS
      CCDS66204.1
      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Related
      ENSP00000331209.4, ENST00000331239.8
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    3. NM_001286069.2 → NP_001272998.1  ester hydrolase C11orf54 isoform a

      See identical proteins and their annotated locations for NP_001272998.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon in the 5' UTR, compared to variant 1. Variants 1-3 and 7-11 all encode the same isoform (a).
      Source sequence(s)
      AA864999, AK291833, AL708049, AP001273, BC012298
      Consensus CDS
      CCDS66204.1
      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Related
      ENSP00000346403.3, ENST00000354421.8
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    4. NM_001286070.2 → NP_001272999.1  ester hydrolase C11orf54 isoform c

      See identical proteins and their annotated locations for NP_001272999.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks two exons in the 5' region and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus than isoform a. Variants 5 and 12 both encode the same isoform (c).
      Source sequence(s)
      AA864999, AL708049, AP001273, BC007110, BC012298, BI597310
      Consensus CDS
      CCDS73366.1
      UniProtKB/TrEMBL
      A8K718
      Related
      ENSP00000442094.1, ENST00000540113.5
      Conserved Domains (1) summary
      pfam08925
      Location:2 → 284
      DUF1907; Domain of Unknown Function (DUF1907)

    5. NM_001286071.2 → NP_001273000.1  ester hydrolase C11orf54 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks an exon in the 5' UTR and an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a. Variants 6 and 14 both encode the same isoform (d).
      Source sequence(s)
      AA864999, AK292215, AP001273, BC012298, BM551310
      Consensus CDS
      CCDS73365.1
      UniProtKB/TrEMBL
      A0A087WT99, A8K718
      Related
      ENSP00000477694.1, ENST00000617482.4
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 244
      DUF1907; Domain of Unknown Function (DUF1907)

    6. NM_001351985.2 → NP_001338914.1  ester hydrolase C11orf54 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7), as well as variants 1-3 and 8-11, encodes isoform a.
      Source sequence(s)
      AP001273
      Consensus CDS
      CCDS66204.1
      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    7. NM_001351986.2 → NP_001338915.1  ester hydrolase C11orf54 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 1-3, 7, and 9-11, encodes isoform a.
      Source sequence(s)
      AP001273
      Consensus CDS
      CCDS66204.1
      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    8. NM_001351987.2 → NP_001338916.1  ester hydrolase C11orf54 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9), as well as variants 1-3, 7, 8, 10 and 11, encodes isoform a.
      Source sequence(s)
      AP001273
      Consensus CDS
      CCDS66204.1
      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    9. NM_001351988.2 → NP_001338917.1  ester hydrolase C11orf54 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10), as well as variants 1-3, 7-9, and 11, encodes isoform a.
      Source sequence(s)
      AP001273
      Consensus CDS
      CCDS66204.1
      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    10. NM_001351989.2 → NP_001338918.1  ester hydrolase C11orf54 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (11), as well as variants 1-3 and 7-10, encodes isoform a.
      Source sequence(s)
      AP001273
      Consensus CDS
      CCDS66204.1
      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    11. NM_001351990.2 → NP_001338919.1  ester hydrolase C11orf54 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variant 5, encodes isoform c.
      Source sequence(s)
      AP001273
      Consensus CDS
      CCDS73366.1
      UniProtKB/TrEMBL
      A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:2 → 284
      DUF1907; Domain of Unknown Function (DUF1907)

    12. NM_001351991.2 → NP_001338920.1  ester hydrolase C11orf54 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variant 4, encodes isoform b.
      Source sequence(s)
      AP001273
      Consensus CDS
      CCDS8294.1
      UniProtKB/TrEMBL
      A0A024R3B0, A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 253
      DUF1907; Domain of Unknown Function (DUF1907)

    13. NM_001351992.2 → NP_001338921.1  ester hydrolase C11orf54 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (14), as well as variant 6, encodes isoform d.
      Source sequence(s)
      AP001273
      Consensus CDS
      CCDS73365.1
      UniProtKB/TrEMBL
      A0A087WT99, A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 244
      DUF1907; Domain of Unknown Function (DUF1907)

    14. NM_001351993.2 → NP_001338922.1  ester hydrolase C11orf54 isoform e

      Status: VALIDATED

      Source sequence(s)
      AP001273
      Conserved Domains (1) summary
      pfam08925
      Location:2 → 234
      DUF1907; Domain of Unknown Function (DUF1907)

    15. NM_001369406.2 → NP_001356335.1  ester hydrolase C11orf54 isoform f

      Status: VALIDATED

      Source sequence(s)
      AP001273
      UniProtKB/TrEMBL
      E9PJU8
      Related
      ENSP00000433723.1, ENST00000533154.1
      Conserved Domains (1) summary
      cd17298
      Location:1 → 193
      DUF1907; proteins similar to putative ester hydrolase C11orf54/PTD012

    16. NM_014039.4 → NP_054758.2  ester hydrolase C11orf54 isoform b

      See identical proteins and their annotated locations for NP_054758.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' UTR and an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 4 and 13 both encode the same isoform (b).
      Source sequence(s)
      AA864999, AP001273, BC012298
      Consensus CDS
      CCDS8294.1
      UniProtKB/TrEMBL
      A0A024R3B0, A8K718
      Related
      ENSP00000433721.1, ENST00000528288.5
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 253
      DUF1907; Domain of Unknown Function (DUF1907)

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      93741672..93764749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426832.1 → XP_047282788.1  ester hydrolase C11orf54 isoform X1

      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4

    2. XM_047426834.1 → XP_047282790.1  ester hydrolase C11orf54 isoform X3

      UniProtKB/TrEMBL
      A0A024R3B0

    3. XM_017017617.2 → XP_016873106.1  ester hydrolase C11orf54 isoform X4

      UniProtKB/TrEMBL
      A0A087WT99, A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 244
      DUF1907; Domain of Unknown Function (DUF1907)

    4. XM_047426833.1 → XP_047282789.1  ester hydrolase C11orf54 isoform X2

    5. XM_011542782.4 → XP_011541084.1  ester hydrolase C11orf54 isoform X1

      See identical proteins and their annotated locations for XP_011541084.1

      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
      UniProtKB/TrEMBL
      A8K718
      Conserved Domains (1) summary
      pfam08925
      Location:21 → 303
      DUF1907; Domain of Unknown Function (DUF1907)

    6. XM_047426835.1 → XP_047282791.1  ester hydrolase C11orf54 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      93658054..93681124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368558.1 → XP_054224533.1  ester hydrolase C11orf54 isoform X2

    2. XM_054368556.1 → XP_054224531.1  ester hydrolase C11orf54 isoform X1

      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4

    3. XM_054368555.1 → XP_054224530.1  ester hydrolase C11orf54 isoform X1

      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4

    4. XM_054368559.1 → XP_054224534.1  ester hydrolase C11orf54 isoform X3

      UniProtKB/TrEMBL
      A0A024R3B0

    5. XM_054368560.1 → XP_054224535.1  ester hydrolase C11orf54 isoform X5

    6. XM_054368557.1 → XP_054224532.1  ester hydrolase C11orf54 isoform X1

      UniProtKB/Swiss-Prot
      A8K850, Q6FI88, Q6XYB0, Q96EI3, Q96IX1, Q9H0W9, Q9Y6B4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0W9.1 GenPept UniProtKB/Swiss-Prot:Q9H0W9

    Gene LinkOut

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

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