Format

Send to:

Choose Destination

C19orf12 chromosome 19 open reading frame 12 [ Homo sapiens (human) ]

Gene ID: 83636, updated on 3-Sep-2017
Official Symbol
C19orf12provided by HGNC
Official Full Name
chromosome 19 open reading frame 12provided by HGNC
Primary source
HGNC:HGNC:25443
See related
Ensembl:ENSG00000131943 MIM:614297; Vega:OTTHUMG00000149838
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
MPAN; NBIA3; NBIA4; SPG43
Summary
This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Orthologs
Location:
19q12
Exon count:
6
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 19 NC_000019.10 (29698886..29715789, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (30189793..30206696, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372353 Neighboring gene pleckstrin homology and FYVE domain containing 1 Neighboring gene uncharacterized LOC107985345 Neighboring gene cyclin E1

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC10922, DKFZp762D096

Gene Ontology Provided by GOA

Process Evidence Code Pubs
apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
protein C19orf12
Names
membrane protein-associated neurodegeneration
neurodegeneration with brain iron accumulation 3

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_031970.1 RefSeqGene

    Range
    5001..21904
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001031726.3NP_001026896.2  protein C19orf12 isoform 1

    See identical proteins and their annotated locations for NP_001026896.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC010513, AC010644, BI753584, DA708831
    Consensus CDS
    CCDS42542.1
    UniProtKB/Swiss-Prot
    Q9NSK7
    Related
    ENSP00000376103.2, OTTHUMP00000194765, ENST00000392278.2, OTTHUMT00000313509
  2. NM_001256046.1NP_001242975.1  protein C19orf12 isoform 3

    See identical proteins and their annotated locations for NP_001242975.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, initiates translation at a downstream, in-frame start codon and uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC010513, AC010644, BC063518, BG722048, DA064969
    Consensus CDS
    CCDS59373.1
    UniProtKB/Swiss-Prot
    Q9NSK7
    Related
    ENSP00000467117.1, OTTHUMP00000268361, ENST00000592153.5, OTTHUMT00000459327
  3. NM_001256047.1NP_001242976.1  protein C19orf12 isoform 2

    See identical proteins and their annotated locations for NP_001242976.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 2 and 4 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC010513, AC010644, DA189248
    Consensus CDS
    CCDS12418.2
    UniProtKB/Swiss-Prot
    Q9NSK7
    Related
    ENSP00000482097.1, ENST00000614091.4
  4. NM_001282929.1NP_001269858.1  protein C19orf12 isoform 4

    See identical proteins and their annotated locations for NP_001269858.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate 5' structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform. Variants 5, 6, and 7 encode the same isoform (4).
    Source sequence(s)
    AC010513, AC010644, BI753584, DA348401
    Consensus CDS
    CCDS74325.1
    UniProtKB/Swiss-Prot
    Q9NSK7
    Related
    ENSP00000485413.1, ENST00000623113.1
  5. NM_001282930.1NP_001269859.1  protein C19orf12 isoform 4

    See identical proteins and their annotated locations for NP_001269859.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) uses an alternate 5' structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform. Variants 5, 6, and 7 encode the same isoform (4).
    Source sequence(s)
    AC010513, AC010644, BC004957, BG722048, DA064969
    Consensus CDS
    CCDS74325.1
    UniProtKB/Swiss-Prot
    Q9NSK7
    Related
    ENSP00000376102.1, OTTHUMP00000194764, ENST00000392276.1, OTTHUMT00000313508
  6. NM_001282931.1NP_001269860.1  protein C19orf12 isoform 4

    See identical proteins and their annotated locations for NP_001269860.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) uses an alternate 5' structure and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (4) with a shorter N-terminus, compared to isoform. Variants 5, 6, and 7 encode the same isoform (4).
    Source sequence(s)
    AC010513, AC010644, BG720088, BG722048, DA064969
    Consensus CDS
    CCDS74325.1
    UniProtKB/Swiss-Prot
    Q9NSK7
  7. NM_031448.4NP_113636.2  protein C19orf12 isoform 2

    See identical proteins and their annotated locations for NP_113636.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 2 and 4 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC010513, AC010644, BG722048, DA064969
    Consensus CDS
    CCDS12418.2
    UniProtKB/Swiss-Prot
    Q9NSK7
    Related
    ENSP00000313332.8, OTTHUMP00000194763, ENST00000323670.13, OTTHUMT00000313507

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

    Range
    29698886..29715789 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 Alternate CHM1_1.1

    Range
    30191134..30208046 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center