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C12orf43 chromosome 12 open reading frame 43 [ Homo sapiens (human) ]

Gene ID: 64897, updated on 22-Aug-2020

Summary

Official Symbol
C12orf43provided by HGNC
Official Full Name
chromosome 12 open reading frame 43provided by HGNC
Primary source
HGNC:HGNC:25719
See related
Ensembl:ENSG00000157895
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
Custos
Expression
Ubiquitous expression in kidney (RPKM 7.1), small intestine (RPKM 5.6) and 25 other tissues See more
Orthologs

Genomic context

See C12orf43 in Genome Data Viewer
Location:
12q24.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (121000486..121016487, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (121440835..121454300, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L12 pseudogene 33 Neighboring gene HNF1A antisense RNA 1 Neighboring gene HNF1 homeobox A Neighboring gene 2'-5'-oligoadenylate synthetase like Neighboring gene 2'-5' oligoadenylate synthetase like 2, pseudogene

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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
GeneReviews: Not available
Genome-wide association and population genetic analysis of C-reactive protein in African American and Hispanic American women.
GeneReviews: Not available
Genomics meets glycomics-the first GWAS study of human N-Glycome identifies HNF1α as a master regulator of plasma protein fucosylation.
GeneReviews: Not available
New susceptibility locus for coronary artery disease on chromosome 3q22.3.
GeneReviews: Not available
New variants including ARG1 polymorphisms associated with C-reactive protein levels identified by genome-wide association and pathway analysis.
GeneReviews: Not available
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12448

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Spemann organizer formation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear envelope IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein CUSTOS
Names
uncharacterized protein C12orf43

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_001286191.2NP_001273120.1  protein CUSTOS isoform a

    See identical proteins and their annotated locations for NP_001273120.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AC079602, AK301566, AK307971, BC014661, BP201132
    Consensus CDS
    CCDS76613.1
    UniProtKB/Swiss-Prot
    Q96C57
    UniProtKB/TrEMBL
    B4DWJ9, F5H7W8
    Related
    ENSP00000442224.2, ENST00000537817.5
  2. NM_001286192.2NP_001273121.1  protein CUSTOS isoform b

    See identical proteins and their annotated locations for NP_001273121.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses alternate splice sites at two coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AC079602, AK225162, AK307971, BC014661, BP201132
    UniProtKB/Swiss-Prot
    Q96C57
  3. NM_001286195.2NP_001273124.1  protein CUSTOS isoform d

    See identical proteins and their annotated locations for NP_001273124.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses alternate splice sites at three coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AC079602, AK301566, BC014661
    Consensus CDS
    CCDS66487.1
    UniProtKB/Swiss-Prot
    Q96C57
    UniProtKB/TrEMBL
    B4DWJ9, G5EA44
    Related
    ENSP00000437803.1, ENST00000539736.5
  4. NM_001286196.2NP_001273125.1  protein CUSTOS isoform e

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses alternate splice sites at two coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
    Source sequence(s)
    AC079602, AK301566, AK307971, BC014661, BP201132, DC297725
    UniProtKB/Swiss-Prot
    Q96C57
    UniProtKB/TrEMBL
    B4DWJ9
  5. NM_001286197.2NP_001273126.1  protein CUSTOS isoform f

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an exon and uses alternate splice sites at two coding exons, but maintains the reading frame, compared to variant 1. The encoded isoform (f) is shorter than isoform a.
    Source sequence(s)
    AC079602, AK307971, BC014661, BP201132, BP343829
    UniProtKB/Swiss-Prot
    Q96C57
    Related
    ENSP00000442041.2, ENST00000538296.5
  6. NM_001286198.2NP_001273127.1  protein CUSTOS isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) contains an alternate exon and uses alternate splice sites at two coding exons, compared to variant 1. It initiates translation at an alternate start codon. The encoded isoform (g) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC079602, AK225162, AK299170, AK307971, BC014661, BP201132
    Consensus CDS
    CCDS66486.1
    UniProtKB/Swiss-Prot
    Q96C57
    UniProtKB/TrEMBL
    B4DRA4, E7ENF1
    Related
    ENSP00000409788.3, ENST00000445832.7
  7. NM_022895.3NP_075046.1  protein CUSTOS isoform c

    See identical proteins and their annotated locations for NP_075046.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site at a coding exon, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is shorter than isoform a.
    Source sequence(s)
    AC079602, AK022510, AK301566, AK307971, BC014661, BP201132
    Consensus CDS
    CCDS9210.1
    UniProtKB/Swiss-Prot
    Q96C57
    UniProtKB/TrEMBL
    B4DWJ9
    Related
    ENSP00000288757.5, ENST00000288757.7

RNA

  1. NR_104409.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) uses alternate splice sites at three internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC079602, AK301566, BC014661, DA014862

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    121000486..121016487 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019829.2XP_016875318.1  protein CUSTOS isoform X1

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