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

Gene ID: 28970, updated on 3-Apr-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, Apr 2022]
Expression
Broad expression in kidney (RPKM 50.9), liver (RPKM 12.2) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
11q21
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (93741672..93764749)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (93658054..93681124)
105.20220307 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
  • 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 (28) 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_2023_10

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

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