MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT001377

Record overview

MITO ID	MT001377
Gene ID	83636
Species	Homo sapiens (Human)
Gene Name	chromosome 19 open reading frame 12
Gene Symbol	C19orf12
Synonyms	NBIA3; NBIA4; SPG43;
Alternate names	protein C19orf12; neurodegeneration with brain iron accumulation 3;
Chromosome	19
Map Location	19q12
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	View orthologs and multiple alignments for C19orf12

Proteins

protein C19orf12 isoform 1

Refseq ID:	NP_001026896
Protein GI:	110611188
UniProt ID:	Q9NSK7
mRNA ID:	NM_001031726
Length:	152
RefSeq Status:

protein C19orf12 isoform 2
`MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLF NEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD`

Refseq ID:	NP_113636
Protein GI:	110611186
UniProt ID:	Q9NSK7
mRNA ID:	NM_031448
Length:	141
RefSeq Status:

protein C19orf12 isoform 2
`MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLE WTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD`

Refseq ID:	NP_001242976
Protein GI:	365777416
UniProt ID:	Q9NSK7
mRNA ID:	NM_001256047
Length:	141
RefSeq Status:

protein C19orf12 isoform 3
Protein sequence is identical to GI:110611186 (mRNA isoform)

Refseq ID:	NP_001242975
Protein GI:	365777413
UniProt ID:	Q9NSK7
mRNA ID:	NM_001256046
Length:	107
RefSeq Status:

protein C19orf12 isoform 4
`MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRPCS SSCWPCW`

Refseq ID:	NP_001269858
Protein GI:	544711211
UniProt ID:	Q9NSK7
mRNA ID:	NM_001282929
Length:	77
RefSeq Status:

protein C19orf12 isoform 4
`MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD`

Refseq ID:	NP_001269859
Protein GI:	544711227
UniProt ID:	Q9NSK7
mRNA ID:	NM_001282930
Length:	77
RefSeq Status:

protein C19orf12 isoform 4
Protein sequence is identical to GI:544711211 (mRNA isoform)

Refseq ID:	NP_001269860
Protein GI:	544711234
UniProt ID:	Q9NSK7
mRNA ID:	NM_001282931
Length:	77
RefSeq Status:

Protein sequence is identical to GI:544711211 (mRNA isoform)