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

Gene ID: 28970, updated on 8-Oct-2018

Summary

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; Vega:OTTHUMG00000167452
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
PTD012; PTOD012
Expression
Broad expression in kidney (RPKM 50.9), liver (RPKM 12.2) and 19 other tissues See more
Orthologs

Genomic context

See C11orf54 in Genome Data Viewer
Location:
11q21
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (93741594..93763102)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (93474769..93496250)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes 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 mediator complex subunit 17 Neighboring gene V-set and transmembrane domain containing 5

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
ester hydrolase C11orf54
Names
epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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_001286067.1NP_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, BC012298
    Consensus CDS
    CCDS66204.1
    UniProtKB/Swiss-Prot
    Q9H0W9
    UniProtKB/TrEMBL
    A0A024R396
    Related
    ENSP00000435113.1, OTTHUMP00000235973, ENST00000528099.5, OTTHUMT00000394673
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  2. NM_001286068.1NP_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, AL708049, BC012298
    Consensus CDS
    CCDS66204.1
    UniProtKB/Swiss-Prot
    Q9H0W9
    UniProtKB/TrEMBL
    A0A024R396
    Related
    ENSP00000331209.4, OTTHUMP00000235971, ENST00000331239.8, OTTHUMT00000394671
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  3. NM_001286069.1NP_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, BC012298
    Consensus CDS
    CCDS66204.1
    UniProtKB/Swiss-Prot
    Q9H0W9
    UniProtKB/TrEMBL
    A0A024R396, A8K718
    Related
    ENSP00000346403.3, OTTHUMP00000235974, ENST00000354421.7, OTTHUMT00000394674
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  4. NM_001286070.1NP_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, BC007110, BC012298, BI597310
    Consensus CDS
    CCDS73366.1
    UniProtKB/Swiss-Prot
    Q9H0W9
    Related
    ENSP00000442094.1, ENST00000540113.5
    Conserved Domains (1) summary
    pfam08925
    Location:2284
    DUF1907; Domain of Unknown Function (DUF1907)
  5. NM_001286071.1NP_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, AL708049, BC012298, BM551310
    Consensus CDS
    CCDS73365.1
    UniProtKB/Swiss-Prot
    Q9H0W9
    UniProtKB/TrEMBL
    A0A087WT99
    Related
    ENSP00000477694.1, ENST00000617482.4
    Conserved Domains (1) summary
    pfam08925
    Location:21244
    DUF1907; Domain of Unknown Function (DUF1907)
  6. NM_001351985.1NP_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
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  7. NM_001351986.1NP_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
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  8. NM_001351987.1NP_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
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  9. NM_001351988.1NP_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
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  10. NM_001351989.1NP_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
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  11. NM_001351990.1NP_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
    Conserved Domains (1) summary
    pfam08925
    Location:2284
    DUF1907; Domain of Unknown Function (DUF1907)
  12. NM_001351991.1NP_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
    Conserved Domains (1) summary
    pfam08925
    Location:21253
    DUF1907; Domain of Unknown Function (DUF1907)
  13. NM_001351992.1NP_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
    Conserved Domains (1) summary
    pfam08925
    Location:21244
    DUF1907; Domain of Unknown Function (DUF1907)
  14. NM_001351993.1NP_001338922.1  ester hydrolase C11orf54 isoform e

    Status: VALIDATED

    Source sequence(s)
    AP001273
    Conserved Domains (1) summary
    pfam08925
    Location:2234
    DUF1907; Domain of Unknown Function (DUF1907)
  15. NM_014039.3NP_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, AL708049, BC012298
    Consensus CDS
    CCDS8294.1
    UniProtKB/Swiss-Prot
    Q9H0W9
    UniProtKB/TrEMBL
    A0A024R3B0
    Related
    ENSP00000433721.1, OTTHUMP00000235970, ENST00000528288.5, OTTHUMT00000394669
    Conserved Domains (1) summary
    pfam08925
    Location:21253
    DUF1907; Domain of Unknown Function (DUF1907)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    93741594..93763102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542781.2XP_011541083.1  ester hydrolase C11orf54 isoform X1

    See identical proteins and their annotated locations for XP_011541083.1

    UniProtKB/Swiss-Prot
    Q9H0W9
    UniProtKB/TrEMBL
    A0A024R396
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
  2. XM_017017617.1XP_016873106.1  ester hydrolase C11orf54 isoform X2

    UniProtKB/TrEMBL
    A0A087WT99
    Conserved Domains (1) summary
    pfam08925
    Location:21244
    DUF1907; Domain of Unknown Function (DUF1907)
  3. XM_011542782.3XP_011541084.1  ester hydrolase C11orf54 isoform X1

    See identical proteins and their annotated locations for XP_011541084.1

    UniProtKB/Swiss-Prot
    Q9H0W9
    UniProtKB/TrEMBL
    A0A024R396
    Conserved Domains (1) summary
    pfam08925
    Location:21303
    DUF1907; Domain of Unknown Function (DUF1907)
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