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Q96JX3

- SRAC1_HUMAN

UniProt

Q96JX3 - SRAC1_HUMAN

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Protein
Protein SERAC1
Gene
SERAC1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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 Publication

GO - Molecular functioni

  1. hydrolase activity, acting on ester bonds Source: InterPro

GO - Biological processi

  1. GPI anchor metabolic process Source: InterPro
  2. extracellular matrix organization Source: Ensembl
  3. intracellular protein transport Source: InterPro
  4. phospholipid biosynthetic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Protein SERAC1
Alternative name(s):
Serine active site-containing protein 1
Gene namesi
Name:SERAC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:21061. SERAC1.

Subcellular locationi

Membrane; Single-pass membrane protein Reviewed prediction. Endoplasmic reticulum. Mitochondrion
Note: Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface.1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei32 – 5423Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. endoplasmic reticulum Source: UniProtKB-SubCell
  3. extracellular matrix Source: Ensembl
  4. integral component of membrane Source: UniProtKB-KW
  5. mitochondrion Source: HPA
  6. nucleus Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

Pathology & Biotechi

Involvement in diseasei

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL) [MIM:614739]: An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti401 – 4011G → D in MEGDEL. 1 Publication
VAR_068442
Natural varianti404 – 4041G → E in MEGDEL. 1 Publication
VAR_068443
Natural varianti479 – 4791Missing in MEGDEL. 1 Publication
VAR_068444
Natural varianti498 – 4981S → T in MEGDEL. 1 Publication
Corresponds to variant rs201941476 [ dbSNP | Ensembl ].
VAR_068445

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MIMi614739. phenotype.
Orphaneti352328. MEGDEL syndrome.
PharmGKBiPA134951844.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 654654Protein SERAC1
PRO_0000274671Add
BLAST

Proteomic databases

MaxQBiQ96JX3.
PaxDbiQ96JX3.
PRIDEiQ96JX3.

PTM databases

PhosphoSiteiQ96JX3.

Expressioni

Tissue specificityi

Widely expressed, with predominant expression in fetal skeletal muscle and adult brain. In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus.1 Publication

Gene expression databases

ArrayExpressiQ96JX3.
BgeeiQ96JX3.
CleanExiHS_SERAC1.
GenevestigatoriQ96JX3.

Organism-specific databases

HPAiHPA025715.
HPA025716.

Interactioni

Protein-protein interaction databases

BioGridi124380. 1 interaction.
IntActiQ96JX3. 1 interaction.
STRINGi9606.ENSP00000356071.

Structurei

3D structure databases

ProteinModelPortaliQ96JX3.

Family & Domainsi

Sequence similaritiesi

Belongs to the SERAC1 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG125753.
HOGENOMiHOG000154411.
HOVERGENiHBG057428.
InParanoidiQ96JX3.
OMAiKGGLWCF.
OrthoDBiEOG7VMP4H.
PhylomeDBiQ96JX3.
TreeFamiTF319689.

Family and domain databases

Gene3Di1.25.10.10. 2 hits.
3.40.50.1820. 1 hit.
InterProiIPR029058. AB_hydrolase.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR012908. PGAP1-like.
[Graphical view]
PfamiPF07819. PGAP1. 1 hit.
[Graphical view]
SUPFAMiSSF48371. SSF48371. 1 hit.
SSF53474. SSF53474. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96JX3-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MSLAAYCVIC CRRIGTSTSP PKSGTHWRDI RNIIKFTGSL ILGGSLFLTY    50
EVLALKKAVT LDTQVVEREK MKSYIYVHTV SLDKGENHGI AWQARKELHK 100
AVRKVLATSA KILRNPFADP FSTVDIEDHE CAVWLLLRKS KSDDKTTRLE 150
AVREMSETHH WHDYQYRIIA QACDPKTLIG LARSEESDLR FFLLPPPLPS 200
LKEDSSTEEE LRQLLASLPQ TELDECIQYF TSLALSESSQ SLAAQKGGLW 250
CFGGNGLPYA ESFGEVPSAT VEMFCLEAIV KHSEISTHCD KIEANGGLQL 300
LQRLYRLHKD CPKVQRNIMR VIGNMALNEH LHSSIVRSGW VSIMAEAMKS 350
PHIMESSHAA RILANLDRET VQEKYQDGVY VLHPQYRTSQ PIKADVLFIH 400
GLMGAAFKTW RQQDSEQAVI EKPMEDEDRY TTCWPKTWLA KDCPALRIIS 450
VEYDTSLSDW RARCPMERKS IAFRSNELLR KLRAAGVGDR PVVWISHSMG 500
GLLVKKMLLE ASTKPEMSTV INNTRGIIFY SVPHHGSRLA EYSVNIRYLL 550
FPSLEVKELS KDSPALKTLQ DDFLEFAKDK NFQVLNFVET LPTYIGSMIK 600
LHVVPVESAD LGIGDLIPVD VNHLNICKPK KKDAFLYQRT LQFIREALAK 650
DLEN 654
Length:654
Mass (Da):74,147
Last modified:December 1, 2001 - v1
Checksum:iB40F3B41C0FBEDDE
GO
Isoform 2 (identifier: Q96JX3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     469-531: KSIAFRSNEL...NNTRGIIFYS → RSLLSISSGI...CCWKPLRSQK
     532-654: Missing.

Show »
Length:531
Mass (Da):60,215
Checksum:i49757860C8A77CE5
GO
Isoform 3 (identifier: Q96JX3-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-167: DYQYR → GNETT
     168-654: Missing.

Show »
Length:167
Mass (Da):18,952
Checksum:i3143EEA6FA3AB1DD
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti401 – 4011G → D in MEGDEL. 1 Publication
VAR_068442
Natural varianti404 – 4041G → E in MEGDEL. 1 Publication
VAR_068443
Natural varianti479 – 4791Missing in MEGDEL. 1 Publication
VAR_068444
Natural varianti498 – 4981S → T in MEGDEL. 1 Publication
Corresponds to variant rs201941476 [ dbSNP | Ensembl ].
VAR_068445
Natural varianti543 – 5431S → T.1 Publication
Corresponds to variant rs17849527 [ dbSNP | Ensembl ].
VAR_030342

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei163 – 1675DYQYR → GNETT in isoform 3.
VSP_022857
Alternative sequencei168 – 654487Missing in isoform 3.
VSP_022858Add
BLAST
Alternative sequencei469 – 53163KSIAF…IIFYS → RSLLSISSGIVEGLESPLHS EATNFLGSSELLVLGIGQWF GYHIAWEVFLSKRCCWKPLR SQK in isoform 2.
VSP_022859Add
BLAST
Alternative sequencei532 – 654123Missing in isoform 2.
VSP_022860Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti47 – 471F → L in AAH28594. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK027823 mRNA. Translation: BAB55393.1.
AL135907, AL590703 Genomic DNA. Translation: CAI42499.1.
AL135907, AL590703 Genomic DNA. Translation: CAI42500.1.
AL590703, AL135907 Genomic DNA. Translation: CAH70239.1.
AL590703, AL135907 Genomic DNA. Translation: CAH70240.1.
BC001705 mRNA. Translation: AAH01705.1.
BC028594 mRNA. Translation: AAH28594.1.
CCDSiCCDS5255.1. [Q96JX3-1]
RefSeqiNP_116250.3. NM_032861.3. [Q96JX3-1]
UniGeneiHs.154706.

Genome annotation databases

EnsembliENST00000367101; ENSP00000356068; ENSG00000122335. [Q96JX3-2]
ENST00000367102; ENSP00000356069; ENSG00000122335. [Q96JX3-2]
ENST00000367104; ENSP00000356071; ENSG00000122335. [Q96JX3-1]
ENST00000607000; ENSP00000475788; ENSG00000122335. [Q96JX3-3]
GeneIDi84947.
KEGGihsa:84947.
UCSCiuc003qrb.2. human. [Q96JX3-1]
uc031sqr.1. human. [Q96JX3-3]

Polymorphism databases

DMDMi74751971.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AK027823 mRNA. Translation: BAB55393.1 .
AL135907 , AL590703 Genomic DNA. Translation: CAI42499.1 .
AL135907 , AL590703 Genomic DNA. Translation: CAI42500.1 .
AL590703 , AL135907 Genomic DNA. Translation: CAH70239.1 .
AL590703 , AL135907 Genomic DNA. Translation: CAH70240.1 .
BC001705 mRNA. Translation: AAH01705.1 .
BC028594 mRNA. Translation: AAH28594.1 .
CCDSi CCDS5255.1. [Q96JX3-1 ]
RefSeqi NP_116250.3. NM_032861.3. [Q96JX3-1 ]
UniGenei Hs.154706.

3D structure databases

ProteinModelPortali Q96JX3.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124380. 1 interaction.
IntActi Q96JX3. 1 interaction.
STRINGi 9606.ENSP00000356071.

PTM databases

PhosphoSitei Q96JX3.

Polymorphism databases

DMDMi 74751971.

Proteomic databases

MaxQBi Q96JX3.
PaxDbi Q96JX3.
PRIDEi Q96JX3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000367101 ; ENSP00000356068 ; ENSG00000122335 . [Q96JX3-2 ]
ENST00000367102 ; ENSP00000356069 ; ENSG00000122335 . [Q96JX3-2 ]
ENST00000367104 ; ENSP00000356071 ; ENSG00000122335 . [Q96JX3-1 ]
ENST00000607000 ; ENSP00000475788 ; ENSG00000122335 . [Q96JX3-3 ]
GeneIDi 84947.
KEGGi hsa:84947.
UCSCi uc003qrb.2. human. [Q96JX3-1 ]
uc031sqr.1. human. [Q96JX3-3 ]

Organism-specific databases

CTDi 84947.
GeneCardsi GC06M158500.
HGNCi HGNC:21061. SERAC1.
HPAi HPA025715.
HPA025716.
MIMi 614725. gene.
614739. phenotype.
neXtProti NX_Q96JX3.
Orphaneti 352328. MEGDEL syndrome.
PharmGKBi PA134951844.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG125753.
HOGENOMi HOG000154411.
HOVERGENi HBG057428.
InParanoidi Q96JX3.
OMAi KGGLWCF.
OrthoDBi EOG7VMP4H.
PhylomeDBi Q96JX3.
TreeFami TF319689.

Miscellaneous databases

GeneWikii SERAC1.
GenomeRNAii 84947.
NextBioi 75426.
PROi Q96JX3.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96JX3.
Bgeei Q96JX3.
CleanExi HS_SERAC1.
Genevestigatori Q96JX3.

Family and domain databases

Gene3Di 1.25.10.10. 2 hits.
3.40.50.1820. 1 hit.
InterProi IPR029058. AB_hydrolase.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR012908. PGAP1-like.
[Graphical view ]
Pfami PF07819. PGAP1. 1 hit.
[Graphical view ]
SUPFAMi SSF48371. SSF48371. 1 hit.
SSF53474. SSF53474. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Placenta.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT THR-543.
    Tissue: Eye and Testis.
  4. Cited for: INVOLVEMENT IN MEGDEL.
  5. Cited for: VARIANTS MEGDEL ASP-401; GLU-404; LEU-479 DEL AND THR-498, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.

Entry informationi

Entry nameiSRAC1_HUMAN
AccessioniPrimary (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: July 9, 2014
This is version 100 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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