UniProtKB - Q96JX3 (SRAC1_HUMAN)
Protein SERAC1
SERAC1
Functioni
Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway.
1 PublicationGO - Biological processi
- extracellular matrix organization Source: Ensembl
- intracellular cholesterol transport Source: UniProtKB
- phosphatidylglycerol acyl-chain remodeling Source: UniProtKB
- phospholipid biosynthetic process Source: UniProtKB-KW
Keywordsi
Biological process | Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism |
Enzyme and pathway databases
PathwayCommonsi | Q96JX3 |
SignaLinki | Q96JX3 |
Protein family/group databases
ESTHERi | human-SERAC1, PGAP1 |
Names & Taxonomyi
Protein namesi | Recommended name: Protein SERAC1Alternative name(s): Serine active site-containing protein 1 |
Gene namesi | Name:SERAC1 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21061, SERAC1 |
MIMi | 614725, gene |
neXtProti | NX_Q96JX3 |
VEuPathDBi | HostDB:ENSG00000122335 |
Subcellular locationi
Mitochondrion
- Mitochondrion 1 Publication
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Other locations
- Membrane Curated; Single-pass membrane protein Curated
Note: Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface.
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKB
Mitochondrion
- mitochondrion Source: UniProtKB
Other locations
- extracellular matrix Source: Ensembl
- integral component of membrane Source: UniProtKB-KW
- mitochondria-associated endoplasmic reticulum membrane Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 32 – 54 | HelicalSequence analysisAdd BLAST | 23 |
Keywords - Cellular componenti
Endoplasmic reticulum, Membrane, MitochondrionPathology & Biotechi
Involvement in diseasei
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068442 | 401 | G → D in MEGDEL. 1 Publication | 1 | |
Natural variantiVAR_068443 | 404 | G → E in MEGDEL. 1 Publication | 1 | |
Natural variantiVAR_068444 | 479 | Missing in MEGDEL. 1 PublicationCorresponds to variant dbSNP:rs1199625391Ensembl. | 1 | |
Natural variantiVAR_068445 | 498 | S → T in MEGDEL. 1 PublicationCorresponds to variant dbSNP:rs201941476EnsemblClinVar. | 1 | |
Natural variantiVAR_080230 | 526 | G → E in MEGDEL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554261079EnsemblClinVar. | 1 |
Keywords - Diseasei
Deafness, Disease variantOrganism-specific databases
DisGeNETi | 84947 |
GeneReviewsi | SERAC1 |
MalaCardsi | SERAC1 |
MIMi | 614739, phenotype |
OpenTargetsi | ENSG00000122335 |
Orphaneti | 352328, MEGDEL syndrome |
PharmGKBi | PA134951844 |
Miscellaneous databases
Pharosi | Q96JX3, Tbio |
Genetic variation databases
BioMutai | SERAC1 |
DMDMi | 74751971 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000274671 | 1 – 654 | Protein SERAC1Add BLAST | 654 |
Proteomic databases
EPDi | Q96JX3 |
jPOSTi | Q96JX3 |
MassIVEi | Q96JX3 |
MaxQBi | Q96JX3 |
PaxDbi | Q96JX3 |
PeptideAtlasi | Q96JX3 |
PRIDEi | Q96JX3 |
ProteomicsDBi | 77011 [Q96JX3-1] 77012 [Q96JX3-2] 77013 [Q96JX3-3] |
PTM databases
iPTMneti | Q96JX3 |
PhosphoSitePlusi | Q96JX3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000122335, Expressed in corpus callosum and 189 other tissues |
ExpressionAtlasi | Q96JX3, baseline and differential |
Genevisiblei | Q96JX3, HS |
Organism-specific databases
HPAi | ENSG00000122335, Low tissue specificity |
Interactioni
Protein-protein interaction databases
BioGRIDi | 124380, 19 interactors |
IntActi | Q96JX3, 4 interactors |
STRINGi | 9606.ENSP00000356071 |
Miscellaneous databases
RNActi | Q96JX3, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q96JX3 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2029, Eukaryota |
GeneTreei | ENSGT00390000003560 |
HOGENOMi | CLU_023317_1_0_1 |
InParanoidi | Q96JX3 |
OMAi | RRTEYIY |
OrthoDBi | 1311762at2759 |
PhylomeDBi | Q96JX3 |
TreeFami | TF319689 |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit 3.40.50.1820, 1 hit |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR011989, ARM-like IPR016024, ARM-type_fold |
SUPFAMi | SSF48371, SSF48371, 1 hit SSF53474, SSF53474, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MSLAAYCVIC CRRIGTSTSP PKSGTHWRDI RNIIKFTGSL ILGGSLFLTY
60 70 80 90 100
EVLALKKAVT LDTQVVEREK MKSYIYVHTV SLDKGENHGI AWQARKELHK
110 120 130 140 150
AVRKVLATSA KILRNPFADP FSTVDIEDHE CAVWLLLRKS KSDDKTTRLE
160 170 180 190 200
AVREMSETHH WHDYQYRIIA QACDPKTLIG LARSEESDLR FFLLPPPLPS
210 220 230 240 250
LKEDSSTEEE LRQLLASLPQ TELDECIQYF TSLALSESSQ SLAAQKGGLW
260 270 280 290 300
CFGGNGLPYA ESFGEVPSAT VEMFCLEAIV KHSEISTHCD KIEANGGLQL
310 320 330 340 350
LQRLYRLHKD CPKVQRNIMR VIGNMALNEH LHSSIVRSGW VSIMAEAMKS
360 370 380 390 400
PHIMESSHAA RILANLDRET VQEKYQDGVY VLHPQYRTSQ PIKADVLFIH
410 420 430 440 450
GLMGAAFKTW RQQDSEQAVI EKPMEDEDRY TTCWPKTWLA KDCPALRIIS
460 470 480 490 500
VEYDTSLSDW RARCPMERKS IAFRSNELLR KLRAAGVGDR PVVWISHSMG
510 520 530 540 550
GLLVKKMLLE ASTKPEMSTV INNTRGIIFY SVPHHGSRLA EYSVNIRYLL
560 570 580 590 600
FPSLEVKELS KDSPALKTLQ DDFLEFAKDK NFQVLNFVET LPTYIGSMIK
610 620 630 640 650
LHVVPVESAD LGIGDLIPVD VNHLNICKPK KKDAFLYQRT LQFIREALAK
DLEN
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A3B3ISE8 | A0A3B3ISE8_HUMAN | Protein SERAC1 | SERAC1 | 109 | Annotation score: | ||
Q5JVM6 | Q5JVM6_HUMAN | Protein SERAC1 | SERAC1 | 152 | Annotation score: | ||
U3KQE4 | U3KQE4_HUMAN | Protein SERAC1 | SERAC1 | 409 | Annotation score: | ||
A0A2R8Y3S0 | A0A2R8Y3S0_HUMAN | Protein SERAC1 | SERAC1 | 624 | Annotation score: | ||
A0A2R8Y511 | A0A2R8Y511_HUMAN | Protein SERAC1 | SERAC1 | 611 | Annotation score: | ||
A0A2R8YCL0 | A0A2R8YCL0_HUMAN | Protein SERAC1 | SERAC1 | 566 | Annotation score: | ||
A0A2R8YD19 | A0A2R8YD19_HUMAN | Protein SERAC1 | SERAC1 | 587 | Annotation score: | ||
A0A2R8YFH3 | A0A2R8YFH3_HUMAN | Protein SERAC1 | SERAC1 | 622 | Annotation score: | ||
U3KQG3 | U3KQG3_HUMAN | Protein SERAC1 | SERAC1 | 42 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 47 | F → L in AAH28594 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_068442 | 401 | G → D in MEGDEL. 1 Publication | 1 | |
Natural variantiVAR_068443 | 404 | G → E in MEGDEL. 1 Publication | 1 | |
Natural variantiVAR_068444 | 479 | Missing in MEGDEL. 1 PublicationCorresponds to variant dbSNP:rs1199625391Ensembl. | 1 | |
Natural variantiVAR_068445 | 498 | S → T in MEGDEL. 1 PublicationCorresponds to variant dbSNP:rs201941476EnsemblClinVar. | 1 | |
Natural variantiVAR_080230 | 526 | G → E in MEGDEL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554261079EnsemblClinVar. | 1 | |
Natural variantiVAR_030342 | 543 | S → T1 PublicationCorresponds to variant dbSNP:rs17849527Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_022857 | 163 – 167 | DYQYR → GNETT in isoform 3. 1 Publication | 5 | |
Alternative sequenceiVSP_022858 | 168 – 654 | Missing in isoform 3. 1 PublicationAdd BLAST | 487 | |
Alternative sequenceiVSP_022859 | 469 – 531 | KSIAF…IIFYS → RSLLSISSGIVEGLESPLHS EATNFLGSSELLVLGIGQWF GYHIAWEVFLSKRCCWKPLR SQK in isoform 2. CuratedAdd BLAST | 63 | |
Alternative sequenceiVSP_022860 | 532 – 654 | Missing in isoform 2. CuratedAdd BLAST | 123 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027823 mRNA Translation: BAB55393.1 AL135907 Genomic DNA No translation available. AL590703 Genomic DNA No translation available. BC001705 mRNA Translation: AAH01705.1 BC028594 mRNA Translation: AAH28594.1 |
CCDSi | CCDS5255.1 [Q96JX3-1] |
RefSeqi | NP_116250.3, NM_032861.3 [Q96JX3-1] |
Genome annotation databases
Ensembli | ENST00000367101.5; ENSP00000356068.1; ENSG00000122335.17 [Q96JX3-2] ENST00000647468.2; ENSP00000496731.1; ENSG00000122335.17 |
GeneIDi | 84947 |
KEGGi | hsa:84947 |
MANE-Selecti | ENST00000647468.2; ENSP00000496731.1; NM_032861.4; NP_116250.3 |
UCSCi | uc003qrc.3, human [Q96JX3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027823 mRNA Translation: BAB55393.1 AL135907 Genomic DNA No translation available. AL590703 Genomic DNA No translation available. BC001705 mRNA Translation: AAH01705.1 BC028594 mRNA Translation: AAH28594.1 |
CCDSi | CCDS5255.1 [Q96JX3-1] |
RefSeqi | NP_116250.3, NM_032861.3 [Q96JX3-1] |
3D structure databases
AlphaFoldDBi | Q96JX3 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124380, 19 interactors |
IntActi | Q96JX3, 4 interactors |
STRINGi | 9606.ENSP00000356071 |
Protein family/group databases
ESTHERi | human-SERAC1, PGAP1 |
PTM databases
iPTMneti | Q96JX3 |
PhosphoSitePlusi | Q96JX3 |
Genetic variation databases
BioMutai | SERAC1 |
DMDMi | 74751971 |
Proteomic databases
EPDi | Q96JX3 |
jPOSTi | Q96JX3 |
MassIVEi | Q96JX3 |
MaxQBi | Q96JX3 |
PaxDbi | Q96JX3 |
PeptideAtlasi | Q96JX3 |
PRIDEi | Q96JX3 |
ProteomicsDBi | 77011 [Q96JX3-1] 77012 [Q96JX3-2] 77013 [Q96JX3-3] |
Protocols and materials databases
Antibodypediai | 20005, 102 antibodies from 21 providers |
DNASUi | 84947 |
Genome annotation databases
Ensembli | ENST00000367101.5; ENSP00000356068.1; ENSG00000122335.17 [Q96JX3-2] ENST00000647468.2; ENSP00000496731.1; ENSG00000122335.17 |
GeneIDi | 84947 |
KEGGi | hsa:84947 |
MANE-Selecti | ENST00000647468.2; ENSP00000496731.1; NM_032861.4; NP_116250.3 |
UCSCi | uc003qrc.3, human [Q96JX3-1] |
Organism-specific databases
CTDi | 84947 |
DisGeNETi | 84947 |
GeneCardsi | SERAC1 |
GeneReviewsi | SERAC1 |
HGNCi | HGNC:21061, SERAC1 |
HPAi | ENSG00000122335, Low tissue specificity |
MalaCardsi | SERAC1 |
MIMi | 614725, gene 614739, phenotype |
neXtProti | NX_Q96JX3 |
OpenTargetsi | ENSG00000122335 |
Orphaneti | 352328, MEGDEL syndrome |
PharmGKBi | PA134951844 |
VEuPathDBi | HostDB:ENSG00000122335 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2029, Eukaryota |
GeneTreei | ENSGT00390000003560 |
HOGENOMi | CLU_023317_1_0_1 |
InParanoidi | Q96JX3 |
OMAi | RRTEYIY |
OrthoDBi | 1311762at2759 |
PhylomeDBi | Q96JX3 |
TreeFami | TF319689 |
Enzyme and pathway databases
PathwayCommonsi | Q96JX3 |
SignaLinki | Q96JX3 |
Miscellaneous databases
BioGRID-ORCSi | 84947, 17 hits in 1074 CRISPR screens |
ChiTaRSi | SERAC1, human |
GeneWikii | SERAC1 |
GenomeRNAii | 84947 |
Pharosi | Q96JX3, Tbio |
PROi | PR:Q96JX3 |
RNActi | Q96JX3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000122335, Expressed in corpus callosum and 189 other tissues |
ExpressionAtlasi | Q96JX3, baseline and differential |
Genevisiblei | Q96JX3, HS |
Family and domain databases
Gene3Di | 1.25.10.10, 1 hit 3.40.50.1820, 1 hit |
InterProi | View protein in InterPro IPR029058, AB_hydrolase IPR011989, ARM-like IPR016024, ARM-type_fold |
SUPFAMi | SSF48371, SSF48371, 1 hit SSF53474, SSF53474, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | SRAC1_HUMAN | |
Accessioni | Q96JX3Primary (citable) accession number: Q96JX3 Secondary accession number(s): Q49AT1, Q5VTX3, Q6PKF3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 6, 2007 |
Last sequence update: | December 1, 2001 | |
Last modified: | May 25, 2022 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families