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UniProtKB - Q96JX3 (SRAC1_HUMAN)

Entry version 147 (07 Apr 2021)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
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Protein

Protein SERAC1

Gene

SERAC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processLipid biosynthesis, Lipid metabolism, Phospholipid biosynthesis, Phospholipid metabolism

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96JX3

Protein family/group databases

ESTHER database of the Alpha/Beta-hydrolase fold superfamily of proteins

More...ESTHERi		human-SERAC1, PGAP1

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein SERAC1
Alternative name(s):
Serine active site-containing protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SERAC1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21061, SERAC1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614725, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96JX3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000122335.13

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei32 – 54HelicalSequence analysisAdd BLAST23

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_068442401G → D in MEGDEL. 1 Publication1
Natural variantiVAR_068443404G → E in MEGDEL. 1 Publication1
Natural variantiVAR_068444479Missing in MEGDEL. 1 PublicationCorresponds to variant dbSNP:rs1199625391Ensembl.1
Natural variantiVAR_068445498S → T in MEGDEL. 1 PublicationCorresponds to variant dbSNP:rs201941476EnsemblClinVar.1
Natural variantiVAR_080230526G → E in MEGDEL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554261079EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		84947

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SERAC1

MalaCards human disease database

More...MalaCardsi		SERAC1
MIMi614739, phenotype

Open Targets

More...OpenTargetsi		ENSG00000122335

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		352328, MEGDEL syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134951844

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96JX3, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SERAC1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74751971

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002746711 – 654Protein SERAC1Add BLAST654

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96JX3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96JX3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96JX3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96JX3

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q96JX3

PeptideAtlas

More...PeptideAtlasi		Q96JX3

PRoteomics IDEntifications database

More...PRIDEi		Q96JX3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77011 [Q96JX3-1]
77012 [Q96JX3-2]
77013 [Q96JX3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96JX3

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q96JX3

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000122335, Expressed in corpus callosum and 189 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96JX3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96JX3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000122335, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124380, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q96JX3, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000356071

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96JX3, protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the SERAC1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2029, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000003560

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023317_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96JX3

Identification of Orthologs from Complete Genome Data

More...OMAi		KTMANLD

Database of Orthologous Groups

More...OrthoDBi		1311762at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96JX3

TreeFam database of animal gene trees

More...TreeFami		TF319689

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.10.10, 1 hit
3.40.50.1820, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029058, AB_hydrolase
IPR011989, ARM-like
IPR016024, ARM-type_fold

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 1 hit
SSF53474, SSF53474, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
        10         20         30         40         50
MSLAAYCVIC CRRIGTSTSP PKSGTHWRDI RNIIKFTGSL ILGGSLFLTY 
        60         70         80         90        100
EVLALKKAVT LDTQVVEREK MKSYIYVHTV SLDKGENHGI AWQARKELHK 
       110        120        130        140        150
AVRKVLATSA KILRNPFADP FSTVDIEDHE CAVWLLLRKS KSDDKTTRLE 
       160        170        180        190        200
AVREMSETHH WHDYQYRIIA QACDPKTLIG LARSEESDLR FFLLPPPLPS 
       210        220        230        240        250
LKEDSSTEEE LRQLLASLPQ TELDECIQYF TSLALSESSQ SLAAQKGGLW 
       260        270        280        290        300
CFGGNGLPYA ESFGEVPSAT VEMFCLEAIV KHSEISTHCD KIEANGGLQL 
       310        320        330        340        350
LQRLYRLHKD CPKVQRNIMR VIGNMALNEH LHSSIVRSGW VSIMAEAMKS 
       360        370        380        390        400
PHIMESSHAA RILANLDRET VQEKYQDGVY VLHPQYRTSQ PIKADVLFIH 
       410        420        430        440        450
GLMGAAFKTW RQQDSEQAVI EKPMEDEDRY TTCWPKTWLA KDCPALRIIS 
       460        470        480        490        500
VEYDTSLSDW RARCPMERKS IAFRSNELLR KLRAAGVGDR PVVWISHSMG 
       510        520        530        540        550
GLLVKKMLLE ASTKPEMSTV INNTRGIIFY SVPHHGSRLA EYSVNIRYLL 
       560        570        580        590        600
FPSLEVKELS KDSPALKTLQ DDFLEFAKDK NFQVLNFVET LPTYIGSMIK 
       610        620        630        640        650
LHVVPVESAD LGIGDLIPVD VNHLNICKPK KKDAFLYQRT LQFIREALAK 

DLEN
Length:654
Mass (Da):74,147
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A3B3ISE8A0A3B3ISE8_HUMAN
Protein SERAC1
SERAC1
109Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5JVM6Q5JVM6_HUMAN
Protein SERAC1
SERAC1
152Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
U3KQE4U3KQE4_HUMAN
Protein SERAC1
SERAC1
409Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y3S0A0A2R8Y3S0_HUMAN
Protein SERAC1
SERAC1
624Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y511A0A2R8Y511_HUMAN
Protein SERAC1
SERAC1
611Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YFH3A0A2R8YFH3_HUMAN
Protein SERAC1
SERAC1
622Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YCL0A0A2R8YCL0_HUMAN
Protein SERAC1
SERAC1
566Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8YD19A0A2R8YD19_HUMAN
Protein SERAC1
SERAC1
587Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
U3KQG3U3KQG3_HUMAN
Protein SERAC1
SERAC1
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti47F → L in AAH28594 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068442401G → D in MEGDEL. 1 Publication1
Natural variantiVAR_068443404G → E in MEGDEL. 1 Publication1
Natural variantiVAR_068444479Missing in MEGDEL. 1 PublicationCorresponds to variant dbSNP:rs1199625391Ensembl.1
Natural variantiVAR_068445498S → T in MEGDEL. 1 PublicationCorresponds to variant dbSNP:rs201941476EnsemblClinVar.1
Natural variantiVAR_080230526G → E in MEGDEL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1554261079EnsemblClinVar.1
Natural variantiVAR_030342543S → T1 PublicationCorresponds to variant dbSNP:rs17849527Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_022857163 – 167DYQYR → GNETT in isoform 3. 1 Publication5
Alternative sequenceiVSP_022858168 – 654Missing in isoform 3. 1 PublicationAdd BLAST487
Alternative sequenceiVSP_022859469 – 531KSIAF…IIFYS → RSLLSISSGIVEGLESPLHS EATNFLGSSELLVLGIGQWF GYHIAWEVFLSKRCCWKPLR SQK in isoform 2. CuratedAdd BLAST63
Alternative sequenceiVSP_022860532 – 654Missing in isoform 2. CuratedAdd BLAST123

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AK027823 mRNA Translation: BAB55393.1
AL135907 Genomic DNA No translation available.
AL590703 Genomic DNA No translation available.
BC001705 mRNA Translation: AAH01705.1
BC028594 mRNA Translation: AAH28594.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5255.1 [Q96JX3-1]

NCBI Reference Sequences

More...RefSeqi		NP_116250.3, NM_032861.3 [Q96JX3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000367101; ENSP00000356068; ENSG00000122335 [Q96JX3-2]
ENST00000647468; ENSP00000496731; ENSG00000122335 [Q96JX3-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84947

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84947

UCSC genome browser

More...UCSCi		uc003qrc.3, human [Q96JX3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK027823 mRNA Translation: BAB55393.1
AL135907 Genomic DNA No translation available.
AL590703 Genomic DNA No translation available.
BC001705 mRNA Translation: AAH01705.1
BC028594 mRNA Translation: AAH28594.1
CCDSiCCDS5255.1 [Q96JX3-1]
RefSeqiNP_116250.3, NM_032861.3 [Q96JX3-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi124380, 7 interactors
IntActiQ96JX3, 3 interactors
STRINGi9606.ENSP00000356071

Protein family/group databases

ESTHERihuman-SERAC1, PGAP1

PTM databases

iPTMnetiQ96JX3
PhosphoSitePlusiQ96JX3

Genetic variation databases

BioMutaiSERAC1
DMDMi74751971

Proteomic databases

EPDiQ96JX3
jPOSTiQ96JX3
MassIVEiQ96JX3
MaxQBiQ96JX3
PaxDbiQ96JX3
PeptideAtlasiQ96JX3
PRIDEiQ96JX3
ProteomicsDBi77011 [Q96JX3-1]
77012 [Q96JX3-2]
77013 [Q96JX3-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		20005, 101 antibodies

Genome annotation databases

EnsembliENST00000367101; ENSP00000356068; ENSG00000122335 [Q96JX3-2]
ENST00000647468; ENSP00000496731; ENSG00000122335 [Q96JX3-1]
GeneIDi84947
KEGGihsa:84947
UCSCiuc003qrc.3, human [Q96JX3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84947
DisGeNETi84947

GeneCards: human genes, protein and diseases

More...GeneCardsi		SERAC1
GeneReviewsiSERAC1
HGNCiHGNC:21061, SERAC1
HPAiENSG00000122335, Low tissue specificity
MalaCardsiSERAC1
MIMi614725, gene
614739, phenotype
neXtProtiNX_Q96JX3
OpenTargetsiENSG00000122335
Orphaneti352328, MEGDEL syndrome
PharmGKBiPA134951844
VEuPathDBiHostDB:ENSG00000122335.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2029, Eukaryota
GeneTreeiENSGT00390000003560
HOGENOMiCLU_023317_1_0_1
InParanoidiQ96JX3
OMAiKTMANLD
OrthoDBi1311762at2759
PhylomeDBiQ96JX3
TreeFamiTF319689

Enzyme and pathway databases

PathwayCommonsiQ96JX3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84947, 10 hits in 992 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SERAC1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SERAC1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		84947
PharosiQ96JX3, Tbio

Protein Ontology

More...PROi		PR:Q96JX3
RNActiQ96JX3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000122335, Expressed in corpus callosum and 189 other tissues
ExpressionAtlasiQ96JX3, baseline and differential
GenevisibleiQ96JX3, HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
3.40.50.1820, 1 hit
InterProiView protein in InterPro
IPR029058, AB_hydrolase
IPR011989, ARM-like
IPR016024, ARM-type_fold
SUPFAMiSSF48371, SSF48371, 1 hit
SSF53474, SSF53474, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSRAC1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96JX3
Secondary accession number(s): Q49AT1, Q5VTX3, Q6PKF3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: December 1, 2001
Last modified: April 7, 2021
This is version 147 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
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