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Q96JX3

- SRAC1_HUMAN

UniProt

Q96JX3 - SRAC1_HUMAN

Protein

Protein SERAC1

Gene

SERAC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
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    • History
      Entry version 101 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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. extracellular matrix organization Source: Ensembl
    2. GPI anchor metabolic process Source: InterPro
    3. intracellular protein transport Source: InterPro
    4. phospholipid biosynthetic process Source: UniProtKB-KW

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

    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

    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.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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 SERAC1PRO_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.
    ModBaseiSearch...
    MobiDBiSearch...

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei32 – 5423HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the SERAC1 family.Curated

    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

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti47 – 471F → L in AAH28594. (PubMed:15489334)Curated

    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. 1 PublicationVSP_022857
    Alternative sequencei168 – 654487Missing in isoform 3. 1 PublicationVSP_022858Add
    BLAST
    Alternative sequencei469 – 53163KSIAF…IIFYS → RSLLSISSGIVEGLESPLHS EATNFLGSSELLVLGIGQWF GYHIAWEVFLSKRCCWKPLR SQK in isoform 2. CuratedVSP_022859Add
    BLAST
    Alternative sequencei532 – 654123Missing in isoform 2. CuratedVSP_022860Add
    BLAST

    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]
    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 ]
    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

    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: October 1, 2014
    This is version 101 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