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SRAC1_HUMAN
ID   SRAC1_HUMAN             Reviewed;         654 AA.
AC   Q96JX3; Q49AT1; Q5VTX3; Q6PKF3;
DT   06-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT   01-DEC-2001, sequence version 1.
DT   03-AUG-2022, entry version 152.
DE   RecName: Full=Protein SERAC1;
DE   AltName: Full=Serine active site-containing protein 1;
GN   Name=SERAC1;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Placenta;
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA   Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA   Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA   Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA   Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA   Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA   French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA   Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA   Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA   Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA   Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA   Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA   Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA   Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA   Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA   Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA   Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA   Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA   Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA   Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA   Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA   West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA   Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA   Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA   Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP   THR-543.
RC   TISSUE=Eye, and Testis;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [4]
RP   INVOLVEMENT IN MEGDEL.
RX   PubMed=23707711; DOI=10.1016/j.ymgme.2013.04.021;
RA   Tort F., Garcia-Silva M.T., Ferrer-Cortes X., Navarro-Sastre A.,
RA   Garcia-Villoria J., Coll M.J., Vidal E., Jimenez-Almazan J., Dopazo J.,
RA   Briones P., Elpeleg O., Ribes A.;
RT   "Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-
RT   methylglutaconic aciduria.";
RL   Mol. Genet. Metab. 110:73-77(2013).
RN   [5]
RP   VARIANTS MEGDEL ASP-401; GLU-404; LEU-479 DEL AND THR-498, FUNCTION,
RP   SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RX   PubMed=22683713; DOI=10.1038/ng.2325;
RA   Wortmann S.B., Vaz F.M., Gardeitchik T., Vissers L.E., Renkema G.H.,
RA   Schuurs-Hoeijmakers J.H., Kulik W., Lammens M., Christin C.,
RA   Kluijtmans L.A., Rodenburg R.J., Nijtmans L.G., Grunewald A., Klein C.,
RA   Gerhold J.M., Kozicz T., van Hasselt P.M., Harakalova M., Kloosterman W.,
RA   Baric I., Pronicka E., Ucar S.K., Naess K., Singhal K.K., Krumina Z.,
RA   Gilissen C., van Bokhoven H., Veltman J.A., Smeitink J.A., Lefeber D.J.,
RA   Spelbrink J.N., Wevers R.A., Morava E., de Brouwer A.P.;
RT   "Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial
RT   function and intracellular cholesterol trafficking and cause dystonia and
RT   deafness.";
RL   Nat. Genet. 44:797-802(2012).
RN   [6]
RP   VARIANT MEGDEL GLU-526.
RX   PubMed=28778788; DOI=10.1016/j.ejmg.2017.07.013;
RA   Radha Rama Devi A., Lingappa L.;
RT   "Novel mutations in SERAC1 gene in two Indian patients presenting with
RT   dystonia and intellectual disability.";
RL   Eur. J. Med. Genet. 61:100-103(2018).
CC   -!- FUNCTION: Plays an important role in the phosphatidylglycerol
CC       remodeling that is essential for both mitochondrial function and
CC       intracellular cholesterol trafficking. May catalyze the remodeling of
CC       phosphatidylglycerol and be involved in the transacylation-acylation
CC       reaction to produce phosphatidylglycerol-36:1. May be involved in
CC       bis(monoacylglycerol)phosphate biosynthetic pathway.
CC       {ECO:0000269|PubMed:22683713}.
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC       protein {ECO:0000305}. Endoplasmic reticulum
CC       {ECO:0000269|PubMed:22683713}. Mitochondrion
CC       {ECO:0000269|PubMed:22683713}. Note=Localizes at the endoplasmic
CC       reticulum and at the endoplasmic reticulum-mitochondria interface.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q96JX3-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q96JX3-2; Sequence=VSP_022859, VSP_022860;
CC       Name=3;
CC         IsoId=Q96JX3-3; Sequence=VSP_022857, VSP_022858;
CC   -!- TISSUE SPECIFICITY: Widely expressed, with predominant expression in
CC       fetal skeletal muscle and adult brain. In the brain, highest levels are
CC       found in the frontal and occipital cortices, cerebellum and
CC       hippocampus. {ECO:0000269|PubMed:22683713}.
CC   -!- DISEASE: 3-methylglutaconic aciduria with deafness, encephalopathy, and
CC       Leigh-like syndrome (MEGDEL) [MIM:614739]: An autosomal recessive
CC       disorder characterized by childhood onset of delayed psychomotor
CC       development or psychomotor regression, sensorineural deafness,
CC       spasticity or dystonia, and increased excretion of 3-methylglutaconic
CC       acid. Brain imaging shows cerebral and cerebellar atrophy as well as
CC       lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory
CC       studies show increased serum lactate and alanine, mitochondrial
CC       oxidative phosphorylation defects, abnormal mitochondria, abnormal
CC       phosphatidylglycerol and cardiolipin profiles in fibroblasts, and
CC       abnormal accumulation of unesterified cholesterol within cells.
CC       {ECO:0000269|PubMed:22683713, ECO:0000269|PubMed:23707711,
CC       ECO:0000269|PubMed:28778788}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the SERAC1 family. {ECO:0000305}.
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DR   EMBL; AK027823; BAB55393.1; -; mRNA.
DR   EMBL; AL135907; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL590703; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC001705; AAH01705.1; -; mRNA.
DR   EMBL; BC028594; AAH28594.1; -; mRNA.
DR   CCDS; CCDS5255.1; -. [Q96JX3-1]
DR   RefSeq; NP_116250.3; NM_032861.3. [Q96JX3-1]
DR   AlphaFoldDB; Q96JX3; -.
DR   BioGRID; 124380; 19.
DR   IntAct; Q96JX3; 4.
DR   STRING; 9606.ENSP00000356071; -.
DR   ESTHER; human-SERAC1; PGAP1.
DR   iPTMnet; Q96JX3; -.
DR   PhosphoSitePlus; Q96JX3; -.
DR   BioMuta; SERAC1; -.
DR   DMDM; 74751971; -.
DR   EPD; Q96JX3; -.
DR   jPOST; Q96JX3; -.
DR   MassIVE; Q96JX3; -.
DR   MaxQB; Q96JX3; -.
DR   PaxDb; Q96JX3; -.
DR   PeptideAtlas; Q96JX3; -.
DR   PRIDE; Q96JX3; -.
DR   ProteomicsDB; 77011; -. [Q96JX3-1]
DR   ProteomicsDB; 77012; -. [Q96JX3-2]
DR   ProteomicsDB; 77013; -. [Q96JX3-3]
DR   Antibodypedia; 20005; 103 antibodies from 21 providers.
DR   DNASU; 84947; -.
DR   Ensembl; ENST00000367101.5; ENSP00000356068.1; ENSG00000122335.17. [Q96JX3-2]
DR   Ensembl; ENST00000647468.2; ENSP00000496731.1; ENSG00000122335.17. [Q96JX3-1]
DR   GeneID; 84947; -.
DR   KEGG; hsa:84947; -.
DR   MANE-Select; ENST00000647468.2; ENSP00000496731.1; NM_032861.4; NP_116250.3.
DR   UCSC; uc003qrc.3; human. [Q96JX3-1]
DR   CTD; 84947; -.
DR   DisGeNET; 84947; -.
DR   GeneCards; SERAC1; -.
DR   GeneReviews; SERAC1; -.
DR   HGNC; HGNC:21061; SERAC1.
DR   HPA; ENSG00000122335; Low tissue specificity.
DR   MalaCards; SERAC1; -.
DR   MIM; 614725; gene.
DR   MIM; 614739; phenotype.
DR   neXtProt; NX_Q96JX3; -.
DR   OpenTargets; ENSG00000122335; -.
DR   Orphanet; 352328; MEGDEL syndrome.
DR   PharmGKB; PA134951844; -.
DR   VEuPathDB; HostDB:ENSG00000122335; -.
DR   eggNOG; KOG2029; Eukaryota.
DR   GeneTree; ENSGT00390000003560; -.
DR   HOGENOM; CLU_023317_1_0_1; -.
DR   InParanoid; Q96JX3; -.
DR   OMA; RRTEYIY; -.
DR   OrthoDB; 1311762at2759; -.
DR   PhylomeDB; Q96JX3; -.
DR   TreeFam; TF319689; -.
DR   PathwayCommons; Q96JX3; -.
DR   SignaLink; Q96JX3; -.
DR   BioGRID-ORCS; 84947; 17 hits in 1074 CRISPR screens.
DR   ChiTaRS; SERAC1; human.
DR   GeneWiki; SERAC1; -.
DR   GenomeRNAi; 84947; -.
DR   Pharos; Q96JX3; Tbio.
DR   PRO; PR:Q96JX3; -.
DR   Proteomes; UP000005640; Chromosome 6.
DR   RNAct; Q96JX3; protein.
DR   Bgee; ENSG00000122335; Expressed in endothelial cell and 146 other tissues.
DR   ExpressionAtlas; Q96JX3; baseline and differential.
DR   Genevisible; Q96JX3; HS.
DR   GO; GO:0005783; C:endoplasmic reticulum; IDA:UniProtKB.
DR   GO; GO:0031012; C:extracellular matrix; IEA:Ensembl.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0044233; C:mitochondria-associated endoplasmic reticulum membrane; IDA:UniProtKB.
DR   GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR   GO; GO:0030198; P:extracellular matrix organization; IEA:Ensembl.
DR   GO; GO:0032367; P:intracellular cholesterol transport; IMP:UniProtKB.
DR   GO; GO:0036148; P:phosphatidylglycerol acyl-chain remodeling; IMP:UniProtKB.
DR   GO; GO:0008654; P:phospholipid biosynthetic process; IEA:UniProtKB-KW.
DR   Gene3D; 1.25.10.10; -; 1.
DR   Gene3D; 3.40.50.1820; -; 1.
DR   InterPro; IPR029058; AB_hydrolase.
DR   InterPro; IPR011989; ARM-like.
DR   InterPro; IPR016024; ARM-type_fold.
DR   SUPFAM; SSF48371; SSF48371; 1.
DR   SUPFAM; SSF53474; SSF53474; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Deafness; Disease variant; Endoplasmic reticulum;
KW   Lipid biosynthesis; Lipid metabolism; Membrane; Mitochondrion;
KW   Phospholipid biosynthesis; Phospholipid metabolism; Reference proteome;
KW   Transmembrane; Transmembrane helix.
FT   CHAIN           1..654
FT                   /note="Protein SERAC1"
FT                   /id="PRO_0000274671"
FT   TRANSMEM        32..54
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   VAR_SEQ         163..167
FT                   /note="DYQYR -> GNETT (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_022857"
FT   VAR_SEQ         168..654
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_022858"
FT   VAR_SEQ         469..531
FT                   /note="KSIAFRSNELLRKLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTV
FT                   INNTRGIIFYS -> RSLLSISSGIVEGLESPLHSEATNFLGSSELLVLGIGQWFGYHI
FT                   AWEVFLSKRCCWKPLRSQK (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_022859"
FT   VAR_SEQ         532..654
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000305"
FT                   /id="VSP_022860"
FT   VARIANT         401
FT                   /note="G -> D (in MEGDEL)"
FT                   /evidence="ECO:0000269|PubMed:22683713"
FT                   /id="VAR_068442"
FT   VARIANT         404
FT                   /note="G -> E (in MEGDEL)"
FT                   /evidence="ECO:0000269|PubMed:22683713"
FT                   /id="VAR_068443"
FT   VARIANT         479
FT                   /note="Missing (in MEGDEL; dbSNP:rs1199625391)"
FT                   /evidence="ECO:0000269|PubMed:22683713"
FT                   /id="VAR_068444"
FT   VARIANT         498
FT                   /note="S -> T (in MEGDEL; dbSNP:rs201941476)"
FT                   /evidence="ECO:0000269|PubMed:22683713"
FT                   /id="VAR_068445"
FT   VARIANT         526
FT                   /note="G -> E (in MEGDEL; unknown pathological
FT                   significance; dbSNP:rs1554261079)"
FT                   /evidence="ECO:0000269|PubMed:28778788"
FT                   /id="VAR_080230"
FT   VARIANT         543
FT                   /note="S -> T (in dbSNP:rs17849527)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_030342"
FT   CONFLICT        47
FT                   /note="F -> L (in Ref. 3; AAH28594)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   654 AA;  74147 MW;  B40F3B41C0FBEDDE CRC64;
     MSLAAYCVIC CRRIGTSTSP PKSGTHWRDI RNIIKFTGSL ILGGSLFLTY EVLALKKAVT
     LDTQVVEREK MKSYIYVHTV SLDKGENHGI AWQARKELHK AVRKVLATSA KILRNPFADP
     FSTVDIEDHE CAVWLLLRKS KSDDKTTRLE AVREMSETHH WHDYQYRIIA QACDPKTLIG
     LARSEESDLR FFLLPPPLPS LKEDSSTEEE LRQLLASLPQ TELDECIQYF TSLALSESSQ
     SLAAQKGGLW CFGGNGLPYA ESFGEVPSAT VEMFCLEAIV KHSEISTHCD KIEANGGLQL
     LQRLYRLHKD CPKVQRNIMR VIGNMALNEH LHSSIVRSGW VSIMAEAMKS PHIMESSHAA
     RILANLDRET VQEKYQDGVY VLHPQYRTSQ PIKADVLFIH GLMGAAFKTW RQQDSEQAVI
     EKPMEDEDRY TTCWPKTWLA KDCPALRIIS VEYDTSLSDW RARCPMERKS IAFRSNELLR
     KLRAAGVGDR PVVWISHSMG GLLVKKMLLE ASTKPEMSTV INNTRGIIFY SVPHHGSRLA
     EYSVNIRYLL FPSLEVKELS KDSPALKTLQ DDFLEFAKDK NFQVLNFVET LPTYIGSMIK
     LHVVPVESAD LGIGDLIPVD VNHLNICKPK KKDAFLYQRT LQFIREALAK DLEN
 
 
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