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SERAC1 information


SERAC1
Identifiers
AliasesSERAC1, serine active site containing 1
External IDsOMIM: 614725; MGI: 2447813; HomoloGene: 41900; GeneCards: SERAC1; OMA:SERAC1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032861

NM_001033127
NM_001111017
NM_177311
NM_001360148

RefSeq (protein)

NP_116250

NP_001104487
NP_796285
NP_001347077

Location (UCSC)Chr 6: 158.11 – 158.17 MbChr 17: 6.09 – 6.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Serine active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene.[5][6][7] The protein encoded by this gene is a phosphatidylglycerol remodeling protein found at the interface of mitochondria and endoplasmic reticula, where it mediates phospholipid exchange. The encoded protein plays a major role in mitochondrial function and intracellular cholesterol trafficking. Defects in this gene are a cause of 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL). Two transcript variants, one protein-coding and the other non-protein coding, have been found for this gene.[5]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000122335 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015659 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: Serine active site containing 1". Retrieved 2012-07-24.Public Domain This article incorporates text from this source, which is in the public domain.
  6. ^ "Protein SERAC1". Retrieved 2018-08-27.SERAC1 This article incorporates text available under the CC BY 4.0 license.
  7. ^ "UniProt: the universal protein knowledgebase". Nucleic Acids Research. 45 (D1): D158–D169. January 2017. doi:10.1093/nar/gkw1099. PMC 5210571. PMID 27899622.

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SERAC1

Last Update:

active site-containing protein 1, or Protein SERAC1 is a protein in humans that is encoded by the SERAC1 gene. The protein encoded by this gene is a...

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Chromosome 6

Last Update:

(cellular)-related 6 SENP6: SUMO1/sentrin specific peptidase 6 (6q14.1) SERAC1: serine active site containing 1 (6q25.3) SERINC1: serine incorporator 1...

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Hereditary spastic paraplegia

Last Update:

recessive Childhood Hereditary sensory neuropathy with spastic paraplegia SPG? SERAC1 6q25.3 Juvenile MEGDEL syndrome SPG? 605739 KY 3q22.2 Autosomal recessive...

Word Count : 3347

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