Format

Send to:

Choose Destination

SERAC1 serine active site containing 1 [ Homo sapiens (human) ]

Gene ID: 84947, updated on 11-Sep-2019

Summary

Official Symbol
SERAC1provided by HGNC
Official Full Name
serine active site containing 1provided by HGNC
Primary source
HGNC:HGNC:21061
See related
Ensembl:ENSG00000122335 MIM:614725
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
Summary
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. [provided by RefSeq, Aug 2012]
Expression
Ubiquitous expression in testis (RPKM 4.2), adrenal (RPKM 3.6) and 25 other tissues See more
Orthologs

Genomic context

See SERAC1 in Genome Data Viewer
Location:
6q25.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (158109515..158168270, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (158530536..158589312, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene sorting nexin 9 Neighboring gene RNA, U6 small nuclear 786, pseudogene Neighboring gene SYNJ2 intronic transcript 1 Neighboring gene synaptojanin 2 Neighboring gene general transcription factor IIH subunit 5 Neighboring gene signal recognition particle 72 pseudogene 2 Neighboring gene TUB like protein 4

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14917, FLJ30544

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
intracellular cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylglycerol acyl-chain remodeling IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Mitochondria-associated ER Membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein SERAC1
Names
serine active site-containing protein 1

NCBI Reference Sequences (RefSeq)

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_032889.1 RefSeqGene

    Range
    5019..63762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032861.4NP_116250.3  protein SERAC1

    See identical proteins and their annotated locations for NP_116250.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and is the protein-coding variant.
    Source sequence(s)
    AK027823, BC001705
    Consensus CDS
    CCDS5255.1
    UniProtKB/Swiss-Prot
    Q96JX3
    Related
    ENSP00000496731.1, ENST00000647468.2
    Conserved Domains (2) summary
    COG0596
    Location:386592
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:396540
    Abhydrolase; alpha/beta hydrolases

RNA

  1. NR_073096.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks two alternate internal exons and has an alternate 3' exon structure compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL590703, BC048335, DA232092
    Related
    ENST00000606965.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    158109515..158168270 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715586.3XP_006715649.1  protein SERAC1 isoform X3

    See identical proteins and their annotated locations for XP_006715649.1

    Related
    ENSP00000493723.1, ENST00000646208.1
    Conserved Domains (2) summary
    COG0596
    Location:316522
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:326470
    Abhydrolase; alpha/beta hydrolases
  2. XM_011536196.3XP_011534498.1  protein SERAC1 isoform X2

    Conserved Domains (2) summary
    COG0596
    Location:379585
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:389533
    Abhydrolase; alpha/beta hydrolases
  3. XM_024446573.1XP_024302341.1  protein SERAC1 isoform X1

  4. XM_011536198.3XP_011534500.1  protein SERAC1 isoform X3

    See identical proteins and their annotated locations for XP_011534500.1

    Conserved Domains (2) summary
    COG0596
    Location:316522
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:326470
    Abhydrolase; alpha/beta hydrolases

RNA

  1. XR_942606.2 RNA Sequence

    Related
    ENST00000648111.1
  2. XR_001743697.2 RNA Sequence

    Related
    ENST00000645172.1
Support Center