Q96JX3 (SRAC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein SERAC1

Alternative name(s):
Serine active site-containing protein 1

Gene names

Name:

SERAC1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	654 AA.
Sequence status	Complete.
Protein existence	Evidence 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.4
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.4
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.4
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
Sequence similarities	Belongs to the SERAC1 family.

Ontologies

Keywords
Biological process	Lipid biosynthesis Lipid metabolism Phospholipid biosynthesis Phospholipid metabolism
Cellular component	Endoplasmic reticulum Membrane Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Deafness Disease mutation
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	GPI anchor metabolic process Inferred from electronic annotation. Source: InterPro extracellular matrix organization Inferred from electronic annotation. Source: Compara intracellular protein transport Inferred from electronic annotation. Source: InterPro phospholipid biosynthetic process Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	extracellular matrix Inferred from electronic annotation. Source: Compara integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW intrinsic to endoplasmic reticulum membrane Inferred from electronic annotation. Source: InterPro mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	hydrolase activity, acting on ester bonds Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 654	654	Protein SERAC1		PRO_0000274671
Regions
	Transmembrane	32 – 54	23	Helical; Potential
Natural variations
	Alternative sequence	163 – 167	5	DYQYR → GNETT in isoform 3.		VSP_022857
	Alternative sequence	168 – 654	487	Missing in isoform 3.		VSP_022858
	Alternative sequence	469 – 531	63	KSIAF…IIFYS → RSLLSISSGIVEGLESPLHS EATNFLGSSELLVLGIGQWF GYHIAWEVFLSKRCCWKPLR SQK in isoform 2.		VSP_022859
	Alternative sequence	532 – 654	123	Missing in isoform 2.		VSP_022860
	Natural variant	401	1	G → D in MEGDEL. Ref.4		VAR_068442
	Natural variant	404	1	G → E in MEGDEL. Ref.4		VAR_068443
	Natural variant	479	1	Missing in MEGDEL. Ref.4		VAR_068444
	Natural variant	498	1	S → T in MEGDEL. Ref.4		VAR_068445
	Natural variant	543	1	S → T. Ref.3 Corresponds to variant rs17849527 [ dbSNP | Ensembl ].		VAR_030342
Experimental info
	Sequence conflict	47	1	F → L in AAH28594. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified December 1, 2001. Version 1. Checksum: B40F3B41C0FBEDDE	FASTA	654	74,147
	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
	Isoform 2 [UniParc]. Checksum: 49757860C8A77CE5	FASTA	531	60,215
	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 RARCPMERRS LLSISSGIVE 490 500 510 520 530 GLESPLHSEA TNFLGSSELL VLGIGQWFGY HIAWEVFLSK RCCWKPLRSQ K
	Isoform 3 [UniParc]. Checksum: 3143EEA6FA3AB1DD	FASTA	167	18,952
	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 FSTVDIEDHE CAVWLLLRKS KSDDKTTRLE AVREMSETHH WHGNETT

References

	« Hide 'large scale' referencesShow '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. , 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]	"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. , 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.
IPI	IPI00014444. IPI00643398. IPI00827783.
RefSeq	NP_116250.3. NM_032861.3.
UniGene	Hs.154706.
3D structure databases
ProteinModelPortal	Q96JX3.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000356071.
PTM databases
PhosphoSite	Q96JX3.
Polymorphism databases
DMDM	74751971.
Proteomic databases
PaxDb	Q96JX3.
PRIDE	Q96JX3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000367101; ENSP00000356068; ENSG00000122335. ENST00000367102; ENSP00000356069; ENSG00000122335. ENST00000367104; ENSP00000356071; ENSG00000122335.
GeneID	84947.
KEGG	hsa:84947.
UCSC	uc003qrb.2. human.
Organism-specific databases
CTD	84947.
GeneCards	GC06M158500.
HGNC	HGNC:21061. SERAC1.
HPA	HPA025715. HPA025716.
MIM	614725. gene. 614739. phenotype.
neXtProt	NX_Q96JX3.
PharmGKB	PA134951844.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG125753.
HOGENOM	HOG000154411.
HOVERGEN	HBG057428.
InParanoid	Q96JX3.
OMA	GNMALNE.
OrthoDB	EOG49ZXNV.
PhylomeDB	Q96JX3.
Gene expression databases
ArrayExpress	Q96JX3.
Bgee	Q96JX3.
CleanEx	HS_SERAC1.
Genevestigator	Q96JX3.
Family and domain databases
Gene3D	1.25.10.10. 2 hits.
InterPro	IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR012908. PGAP1-like. [Graphical view]
Pfam	PF07819. PGAP1. 1 hit. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	84947.
NextBio	75426.
SOURCE	Search...

Entry information

Entry name

SRAC1_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 86 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.