FAM57B
entrez
83723
canonical
uniprot
Q71RH2
canonical
ensembl
ENSG00000149926
resolver
ensp
ENSP00000279389
resolver
ensp
ENSP00000369863
resolver
genesymbol
FAM57B
resolver
genesymbol
TLCD3B
resolver
genesymbol_syn
FAM57B
resolver
hgnc
HGNC:25295
resolver
uniprot
F1T0F5
resolver
uniprot
Q9H0J1
resolver
uniprot_entry
F1T0F5_HUMAN
resolver
uniprot_entry
TLC3B_HUMAN
resolver
uniprot_sec
Q9H0J1
resolver
amino_acid_sequence
MLTPMVAGGVVFPGLFLLSKNTLQRLPQLRWEEADAVIVSARLVSSVQAIMASTAGYIVSTSCKHIIDDQHWLSSAYTQFAVPYFIYDIYAMFLCHWHKHQVKGHGGDDGAARAPGSTWAIARGYLHKEFLMVLHHAAMVLVCFPLSVVWRQGKGDFFLGCMLMAEVSTPFVCLGKILIQYKQQHTLLHKVNGALMLLSFLCCRVLLFPYLYWAYGRHAGLPLLAVPLAIPAHVNLGAALLLAPQLYWFFLICRGACRLFWPRSRPPPACQAQD
uniprot
proteins
disease_involvement
DISEASE: Cone-rod dystrophy 22 (CORD22) [MIM:619531]: An autosomal recessive form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:33077892}. Note=The disease may be caused by variants affecting distinct genetic loci, including the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
function
FUNCTION: Involved in ceramide synthesis. {ECO:0000250}.
uniprot
proteins
mass_dalton
30629
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
33077892
uniprot
proteins
sequence_length
274
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q7TNV1}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: [Isoform 2]: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q7TNV1}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 130..150; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 159..179; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 194..214; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 223..243; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins