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C12orf57 chromosome 12 open reading frame 57 [ Homo sapiens (human) ]

Gene ID: 113246, updated on 23-Mar-2015
Official Symbol
C12orf57provided by HGNC
Official Full Name
chromosome 12 open reading frame 57provided by HGNC
Primary source
HGNC:HGNC:29521
See related
Ensembl:ENSG00000111678; HPRD:13609; MIM:615140; Vega:OTTHUMG00000169017
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C10; GRCC10
Summary
This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Orthologs
See C12orf57 in MapViewer
Location:
12p13.31
Exon count:
4
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (6943438..6946003)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (7052146..7055165)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene enolase 2 (gamma, neuronal) Neighboring gene uncharacterized LOC105369633 Neighboring gene atrophin 1 Neighboring gene RNA, U7 small nuclear 1 Neighboring gene protein tyrosine phosphatase, non-receptor type 6 Neighboring gene uncharacterized LOC105369634

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: ATN1

Homology

Clone Names

  • FLJ17308, FLJ23836

Gene Ontology Provided by GOA

Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein C10
Names
protein C10
likely ortholog of mouse gene rich cluster, C10

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.

Genomic

  1. NG_034262.1 RefSeqGene

    Range
    4622..7187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001301834.1NP_001288763.1  protein C10 isoform 1

    See proteins identical to NP_001288763.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and encodes the same isoform (1), compared to variant 1.
    Source sequence(s)
    BP318750, CB161655
    UniProtKB/Swiss-Prot
    Q99622
    Related
    ENSP00000440602, OTTHUMP00000239933, ENST00000545581, OTTHUMT00000401956
    Conserved Domains (1) summary
    pfam14974
    Location:10114
    DUF4511; Domain of unknown function (DUF4511)
  2. NM_001301836.1NP_001288765.1  protein C10 isoform 2

    See proteins identical to NP_001288765.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 5' exon, which results in an alternate AUG start codon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    BP318750, DB494917
    Conserved Domains (1) summary
    pfam14974
    Location:6101
    DUF4511; Domain of unknown function (DUF4511)
  3. NM_001301837.1NP_001288766.1  protein C10 isoform 3

    See proteins identical to NP_001288766.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has an alternate splice site in the coding region but maintains the reading frame, compared to variant 1. The resulting isoform (3) lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    BM687523, BM781587, BP318750
    UniProtKB/TrEMBL
    F5GXW5
    Related
    ENSP00000440937, OTTHUMP00000239934, ENST00000537087, OTTHUMT00000401958
    Conserved Domains (1) summary
    pfam14974
    Location:1085
    DUF4511; Domain of unknown function (DUF4511)
  4. NM_001301838.1NP_001288767.1  protein C10 isoform 4

    See proteins identical to NP_001288767.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate splice site in the 5' region, which results in translation initiation at a downstream AUG start codon, compared to variant 1. The resulting isoform (4) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    BE888740, BM781587, BP318750
    UniProtKB/TrEMBL
    U3KQ85
    Conserved Domains (1) summary
    pfam14974
    Location:179
    DUF4511; Domain of unknown function (DUF4511)
  5. NM_138425.3NP_612434.1  protein C10 isoform 1

    See proteins identical to NP_612434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is a predominant transcript and encodes the longest isoform (1). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    BC009925, BM781587, BP318750
    Consensus CDS
    CCDS8571.1
    UniProtKB/Swiss-Prot
    Q99622
    Conserved Domains (1) summary
    pfam14974
    Location:10114
    DUF4511; Domain of unknown function (DUF4511)

RNA

  1. NR_126035.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AV751928, BM781587, BP318750

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    6943438..6946003
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    7051588..7054153
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)