Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q96JX3 (SRAC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 100. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein SERAC1
Alternative name(s):
Serine active site-containing protein 1
Gene names
Name:SERAC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length654 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.5

Subcellular location

Membrane; Single-pass membrane protein Potential. Endoplasmic reticulum. Mitochondrion. Note: Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface. Ref.5

Tissue specificity

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. Ref.5

Involvement in disease

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. Ref.4 Ref.5

Sequence similarities

Belongs to the SERAC1 family.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96JX3-1)

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.
Isoform 2 (identifier: Q96JX3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     469-531: KSIAFRSNEL...NNTRGIIFYS → RSLLSISSGI...CCWKPLRSQK
     532-654: Missing.
Isoform 3 (identifier: Q96JX3-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 654654Protein SERAC1
PRO_0000274671

Regions

Transmembrane32 – 5423Helical; Potential

Natural variations

Alternative sequence163 – 1675DYQYR → GNETT in isoform 3.
VSP_022857
Alternative sequence168 – 654487Missing in isoform 3.
VSP_022858
Alternative sequence469 – 53163KSIAF…IIFYS → RSLLSISSGIVEGLESPLHS EATNFLGSSELLVLGIGQWF GYHIAWEVFLSKRCCWKPLR SQK in isoform 2.
VSP_022859
Alternative sequence532 – 654123Missing in isoform 2.
VSP_022860
Natural variant4011G → D in MEGDEL. Ref.5
VAR_068442
Natural variant4041G → E in MEGDEL. Ref.5
VAR_068443
Natural variant4791Missing in MEGDEL. Ref.5
VAR_068444
Natural variant4981S → T in MEGDEL. Ref.5
Corresponds to variant rs201941476 [ dbSNP | Ensembl ].
VAR_068445
Natural variant5431S → T. Ref.3
Corresponds to variant rs17849527 [ dbSNP | Ensembl ].
VAR_030342

Experimental info

Sequence conflict471F → L in AAH28594. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: B40F3B41C0FBEDDE

FASTA65474,147
        10         20         30         40         50         60 
MSLAAYCVIC CRRIGTSTSP PKSGTHWRDI RNIIKFTGSL ILGGSLFLTY EVLALKKAVT 

        70         80         90        100        110        120 
LDTQVVEREK MKSYIYVHTV SLDKGENHGI AWQARKELHK AVRKVLATSA KILRNPFADP 

       130        140        150        160        170        180 
FSTVDIEDHE CAVWLLLRKS KSDDKTTRLE AVREMSETHH WHDYQYRIIA QACDPKTLIG 

       190        200        210        220        230        240 
LARSEESDLR FFLLPPPLPS LKEDSSTEEE LRQLLASLPQ TELDECIQYF TSLALSESSQ 

       250        260        270        280        290        300 
SLAAQKGGLW CFGGNGLPYA ESFGEVPSAT VEMFCLEAIV KHSEISTHCD KIEANGGLQL 

       310        320        330        340        350        360 
LQRLYRLHKD CPKVQRNIMR VIGNMALNEH LHSSIVRSGW VSIMAEAMKS PHIMESSHAA 

       370        380        390        400        410        420 
RILANLDRET VQEKYQDGVY VLHPQYRTSQ PIKADVLFIH GLMGAAFKTW RQQDSEQAVI 

       430        440        450        460        470        480 
EKPMEDEDRY TTCWPKTWLA KDCPALRIIS VEYDTSLSDW RARCPMERKS IAFRSNELLR 

       490        500        510        520        530        540 
KLRAAGVGDR PVVWISHSMG GLLVKKMLLE ASTKPEMSTV INNTRGIIFY SVPHHGSRLA 

       550        560        570        580        590        600 
EYSVNIRYLL FPSLEVKELS KDSPALKTLQ DDFLEFAKDK NFQVLNFVET LPTYIGSMIK 

       610        620        630        640        650 
LHVVPVESAD LGIGDLIPVD VNHLNICKPK KKDAFLYQRT LQFIREALAK DLEN 

« Hide

Isoform 2 [UniParc].

Checksum: 49757860C8A77CE5
Show »

FASTA53160,215
Isoform 3 [UniParc].

Checksum: 3143EEA6FA3AB1DD
Show »

FASTA16718,952

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]"Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria."
Tort F., Garcia-Silva M.T., Ferrer-Cortes X., Navarro-Sastre A., Garcia-Villoria J., Coll M.J., Vidal E., Jimenez-Almazan J., Dopazo J., Briones P., Elpeleg O., Ribes A.
Mol. Genet. Metab. 110:73-77(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MEGDEL.
[5]"Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness."
Wortmann S.B., Vaz F.M., Gardeitchik T., Vissers L.E., Renkema G.H., Schuurs-Hoeijmakers J.H., Kulik W., Lammens M., Christin C., Kluijtmans L.A., Rodenburg R.J., Nijtmans L.G., Grunewald A., Klein C., Gerhold J.M., Kozicz T., van Hasselt P.M., Harakalova M. expand/collapse author list , Kloosterman W., Baric I., Pronicka E., Ucar S.K., Naess K., Singhal K.K., Krumina Z., Gilissen C., van Bokhoven H., Veltman J.A., Smeitink J.A., Lefeber D.J., Spelbrink J.N., Wevers R.A., Morava E., de Brouwer A.P.
Nat. Genet. 44:797-802(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MEGDEL ASP-401; GLU-404; LEU-479 DEL AND THR-498, FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS5255.1. [Q96JX3-1]
RefSeqNP_116250.3. NM_032861.3. [Q96JX3-1]
UniGeneHs.154706.

3D structure databases

ProteinModelPortalQ96JX3.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124380. 1 interaction.
IntActQ96JX3. 1 interaction.
STRING9606.ENSP00000356071.

PTM databases

PhosphoSiteQ96JX3.

Polymorphism databases

DMDM74751971.

Proteomic databases

MaxQBQ96JX3.
PaxDbQ96JX3.
PRIDEQ96JX3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000367101; ENSP00000356068; ENSG00000122335. [Q96JX3-2]
ENST00000367102; ENSP00000356069; ENSG00000122335. [Q96JX3-2]
ENST00000367104; ENSP00000356071; ENSG00000122335. [Q96JX3-1]
ENST00000607000; ENSP00000475788; ENSG00000122335. [Q96JX3-3]
GeneID84947.
KEGGhsa:84947.
UCSCuc003qrb.2. human. [Q96JX3-1]
uc031sqr.1. human. [Q96JX3-3]

Organism-specific databases

CTD84947.
GeneCardsGC06M158500.
HGNCHGNC:21061. SERAC1.
HPAHPA025715.
HPA025716.
MIM614725. gene.
614739. phenotype.
neXtProtNX_Q96JX3.
Orphanet352328. MEGDEL syndrome.
PharmGKBPA134951844.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG125753.
HOGENOMHOG000154411.
HOVERGENHBG057428.
InParanoidQ96JX3.
OMAKGGLWCF.
OrthoDBEOG7VMP4H.
PhylomeDBQ96JX3.
TreeFamTF319689.

Gene expression databases

ArrayExpressQ96JX3.
BgeeQ96JX3.
CleanExHS_SERAC1.
GenevestigatorQ96JX3.

Family and domain databases

Gene3D1.25.10.10. 2 hits.
3.40.50.1820. 1 hit.
InterProIPR029058. AB_hydrolase.
IPR011989. ARM-like.
IPR016024. ARM-type_fold.
IPR012908. PGAP1-like.
[Graphical view]
PfamPF07819. PGAP1. 1 hit.
[Graphical view]
SUPFAMSSF48371. SSF48371. 1 hit.
SSF53474. SSF53474. 1 hit.
ProtoNetSearch...

Other

GeneWikiSERAC1.
GenomeRNAi84947.
NextBio75426.
PROQ96JX3.
SOURCESearch...

Entry information

Entry nameSRAC1_HUMAN
AccessionPrimary (citable) accession number: Q96JX3
Secondary accession number(s): Q49AT1, Q5VTX3, Q6PKF3
Entry history
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 statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM