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

Gene ID: 84947, updated on 8-May-2016
Official Symbol
SERAC1provided by HGNC
Official Full Name
serine active site containing 1provided by HGNC
Primary source
HGNC:HGNC:21061
See related
Ensembl:ENSG00000122335 HPRD:10223; MIM:614725; Vega:OTTHUMG00000015905
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]
Orthologs
Location:
6q25.3
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (158109504..158168280, 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 SYNJ2 intronic transcript 1 Neighboring gene synaptojanin 2 Neighboring gene uncharacterized LOC105378079 Neighboring gene general transcription factor IIH subunit 5 Neighboring gene signal recognition particle 72kDa pseudogene 2 Neighboring gene tubby like protein 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ14917, FLJ30544

Gene Ontology Provided by GOA

Process Evidence Code Pubs
extracellular matrix organization IEA
Inferred from Electronic Annotation
more info
 
phospholipid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
proteinaceous extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein SERAC1
Names
serine active site-containing protein 1

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
    5001..63777
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032861.3NP_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)
    AA128978, AK027823, BC001705, DB046171
    Consensus CDS
    CCDS5255.1
    UniProtKB/Swiss-Prot
    Q96JX3
    Related
    ENSP00000356071, OTTHUMP00000017498, ENST00000367104, OTTHUMT00000042862
    Conserved Domains (2) summary
    COG0596
    Location:386592
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:396540
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

RNA

  1. NR_073096.1 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, OTTHUMT00000470171

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    158109504..158168280 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715586.1XP_006715649.1  

    See identical proteins and their annotated locations for XP_006715649.1

    Conserved Domains (2) summary
    COG0596
    Location:316522
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:326470
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  2. XM_011536196.1XP_011534498.1  

    Conserved Domains (2) summary
    COG0596
    Location:379585
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:389533
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  3. XM_011536197.1XP_011534499.1  

    Conserved Domains (2) summary
    COG0596
    Location:348554
    MhpC; Pimeloyl-ACP methyl ester carboxylesterase [Coenzyme transport and metabolism, General function prediction only]
    cl21494
    Location:358502
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...
  4. XM_011536198.1XP_011534500.1  

    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
    Esterase_lipase; Esterases and lipases (includes fungal lipases, cholinesterases, etc.) These enzymes act on carboxylic esters (EC: 3.1.1.-). The catalytic apparatus involves three residues (catalytic triad): a serine, a glutamate or aspartate and a histidine.These ...

RNA

  1. XR_942606.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    158792759..158851576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)