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UniProtKB - Q15526 (SURF1_HUMAN)

Entry version 169 (07 Apr 2021)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
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Protein

Surfeit locus protein 1

Gene

SURF1

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 protein 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

Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, that regulates cytochrome c oxidase assembly.1 Publication2 Publications

<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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q15526

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5628897, TP53 Regulates Metabolic Genes
R-HSA-611105, Respiratory electron transport

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q15526

<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:
Surfeit locus 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:SURF1
Synonyms:SURF-1
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:11474, SURF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		185620, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q15526

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000148290.9

<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>Transmembranei61 – 79HelicalSequence analysisAdd BLAST19
Transmembranei274 – 290HelicalSequence analysisAdd BLAST17

<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>Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

<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

Mitochondrial complex IV deficiency, nuclear type 1 (MC4DN1)11 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder of the mitochondrial respiratory chain characterized by early-onset, rapidly progressive encephalopathy, neurodegeneration, and loss of motor and cognitive skills. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor communication, poor eye contact, oculomotor abnormalities, as well as deafness, ataxia, tremor, and brisk tendon reflexes. Brain imaging shows bilateral symmetric lesions in the basal ganglia. Lactate levels in serum and cerebrospinal fluid are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. Death in childhood may occur, often due to central respiratory failure.
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_06864856A → G in MC4DN1; benign variant. 1 PublicationCorresponds to variant dbSNP:rs116779216EnsemblClinVar.1
Natural variantiVAR_06864990L → P in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs782024654EnsemblClinVar.1
Natural variantiVAR_083393105 – 300Missing in MC4DN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224228Add BLAST196
Natural variantiVAR_007450124G → E in MC4DN1; reduced protein stability. 2 PublicationsCorresponds to variant dbSNP:rs28933402EnsemblClinVar.1
Natural variantiVAR_015258124G → R in MC4DN1. Corresponds to variant dbSNP:rs782033035Ensembl.1
Natural variantiVAR_068650177V → G in MC4DN1. 1 Publication1
Natural variantiVAR_083394178N → Y in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly. 1 PublicationCorresponds to variant dbSNP:rs587753385EnsemblClinVar.1
Natural variantiVAR_068651205G → E in MC4DN1. 1 Publication1
Natural variantiVAR_068682227W → R in MC4DN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122806EnsemblClinVar.1
Natural variantiVAR_068652235M → T in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs1319811735Ensembl.1
Natural variantiVAR_007452246I → T in MC4DN1. 2 Publications1
Natural variantiVAR_068653248A → D in MC4DN1. 1 Publication1
Natural variantiVAR_068654257G → R in MC4DN1. 1 Publication1
Natural variantiVAR_083395257G → V in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs1030336089Ensembl.1
Natural variantiVAR_083396258P → S in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly. 1 Publication1
Natural variantiVAR_083397270E → EHLQYE in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly; . 1 PublicationCorresponds to variant dbSNP:rs782161777Ensembl.1
Natural variantiVAR_015259274Y → D in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs121918658EnsemblClinVar.1
Charcot-Marie-Tooth disease 4K (CMT4K)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. CMT4K patients manifest upper and lower limbs involvement. Some affected individuals have nystagmus and late-onset cerebellar ataxia.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076315192R → W in CMT4K; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782190413EnsemblClinVar.1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease variant, Leigh syndrome, Neurodegeneration, Neuropathy, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		6834

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

More...GeneReviewsi		SURF1

MalaCards human disease database

More...MalaCardsi		SURF1
MIMi220110, phenotype
616684, phenotype

Open Targets

More...OpenTargetsi		ENSG00000148290

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

More...Orphaneti		70474, Leigh syndrome with cardiomyopathy
255241, Leigh syndrome with leukodystrophy
391351, SURF1-related Charcot-Marie-Tooth disease type 4

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36259

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q15526, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SURF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		2498973

<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_00002156521 – 300Surfeit locus protein 1Add BLAST300

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q15526

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q15526

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q15526

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q15526

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

More...PaxDbi		Q15526

PeptideAtlas

More...PeptideAtlasi		Q15526

PRoteomics IDEntifications database

More...PRIDEi		Q15526

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60616 [Q15526-1]
60617 [Q15526-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q15526

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q15526

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

More...PhosphoSitePlusi		Q15526

<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 the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

Expressed in the fetus (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000148290, Expressed in parotid gland and 239 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q15526, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q15526, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000148290, 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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the MITRAC (mitochondrial translation regulation assembly intermediate of cytochrome c oxidase complex) complex, the core components of this complex being COA3/MITRAC12 and COX14.

Interacts with COA3.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112701, 164 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q15526

Protein interaction database and analysis system

More...IntActi		Q15526, 11 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000361042

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q15526, 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 SURF1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1563, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000064194

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q15526

Identification of Orthologs from Complete Genome Data

More...OMAi		WYSRDVA

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q15526

TreeFam database of animal gene trees

More...TreeFami		TF314684

Family and domain databases

Conserved Domains Database

More...CDDi		cd06662, SURF1, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002994, Surf1/Shy1

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02104, SURF1, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50895, SURF1, 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 (2+)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 2 <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 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15526-1) [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
MAAVAALQLG LRAAGLGRAP ASAAWRSVLR VSPRPGVAWR PSRCGSSAAE 
        60         70         80         90        100
ASATKAEDDS FLQWVLLLIP VTAFGLGTWQ VQRRKWKLNL IAELESRVLA 
       110        120        130        140        150
EPVPLPADPM ELKNLEYRPV KVRGCFDHSK ELYMMPRTMV DPVREAREGG 
       160        170        180        190        200
LISSSTQSGA YVVTPFHCTD LGVTILVNRG FVPRKKVNPE TRQKGQIEGE 
       210        220        230        240        250
VDLIGMVRLT ETRQPFVPEN NPERNHWHYR DLEAMARITG AEPIFIDANF 
       260        270        280        290        300
QSTVPGGPIG GQTRVTLRNE HLQYIVTWYG LSAATSYLWF KKFLRGTPGV
Length:300
Mass (Da):33,331
Last modified:November 1, 1996 - 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:iEC890EA48A0EDE7A
GO
Isoform 2 (identifier: Q15526-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     173-184: Missing.

Show »
Length:288
Mass (Da):31,979
Checksum:iFF30182CA2C1EE6C
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYS9A0A087WYS9_HUMAN
SURF1-like protein
SURF1
191Annotation score:

Annotation score:2 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06864856A → G in MC4DN1; benign variant. 1 PublicationCorresponds to variant dbSNP:rs116779216EnsemblClinVar.1
Natural variantiVAR_03634089N → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_06864990L → P in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs782024654EnsemblClinVar.1
Natural variantiVAR_083393105 – 300Missing in MC4DN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs863224228Add BLAST196
Natural variantiVAR_007450124G → E in MC4DN1; reduced protein stability. 2 PublicationsCorresponds to variant dbSNP:rs28933402EnsemblClinVar.1
Natural variantiVAR_015258124G → R in MC4DN1. Corresponds to variant dbSNP:rs782033035Ensembl.1
Natural variantiVAR_068650177V → G in MC4DN1. 1 Publication1
Natural variantiVAR_083394178N → Y in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly. 1 PublicationCorresponds to variant dbSNP:rs587753385EnsemblClinVar.1
Natural variantiVAR_076315192R → W in CMT4K; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782190413EnsemblClinVar.1
Natural variantiVAR_007451202D → H2 PublicationsCorresponds to variant dbSNP:rs72619327EnsemblClinVar.1
Natural variantiVAR_068651205G → E in MC4DN1. 1 Publication1
Natural variantiVAR_068682227W → R in MC4DN1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs398122806EnsemblClinVar.1
Natural variantiVAR_068652235M → T in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs1319811735Ensembl.1
Natural variantiVAR_007452246I → T in MC4DN1. 2 Publications1
Natural variantiVAR_068653248A → D in MC4DN1. 1 Publication1
Natural variantiVAR_068654257G → R in MC4DN1. 1 Publication1
Natural variantiVAR_083395257G → V in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs1030336089Ensembl.1
Natural variantiVAR_083396258P → S in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly. 1 Publication1
Natural variantiVAR_083397270E → EHLQYE in MC4DN1; unknown pathological significance; reduces protein stability; impairs complex IV assembly; . 1 PublicationCorresponds to variant dbSNP:rs782161777Ensembl.1
Natural variantiVAR_015259274Y → D in MC4DN1. 1 PublicationCorresponds to variant dbSNP:rs121918658EnsemblClinVar.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_034817173 – 184Missing in isoform 2. CuratedAdd BLAST12

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
Z35093 mRNA Translation: CAA84476.1
AK291122 mRNA Translation: BAF83811.1
AL158826 Genomic DNA Translation: CAI12836.1
AL158826 Genomic DNA Translation: CAI12837.1
BC028314 mRNA Translation: AAH28314.1
BC071658 mRNA Translation: AAH71658.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6966.1 [Q15526-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S57749

NCBI Reference Sequences

More...RefSeqi		NP_001267716.1, NM_001280787.1
NP_003163.1, NM_003172.3 [Q15526-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000371974; ENSP00000361042; ENSG00000148290 [Q15526-1]
ENST00000626663; ENSP00000487158; ENSG00000280627 [Q15526-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6834

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6834

UCSC genome browser

More...UCSCi		uc004cdh.3, human [Q15526-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Surfeit 1 (SURF1)

Leiden Open Variation Database (LOVD)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z35093 mRNA Translation: CAA84476.1
AK291122 mRNA Translation: BAF83811.1
AL158826 Genomic DNA Translation: CAI12836.1
AL158826 Genomic DNA Translation: CAI12837.1
BC028314 mRNA Translation: AAH28314.1
BC071658 mRNA Translation: AAH71658.1
CCDSiCCDS6966.1 [Q15526-1]
PIRiS57749
RefSeqiNP_001267716.1, NM_001280787.1
NP_003163.1, NM_003172.3 [Q15526-1]

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

BioGRIDi112701, 164 interactors
CORUMiQ15526
IntActiQ15526, 11 interactors
STRINGi9606.ENSP00000361042

PTM databases

iPTMnetiQ15526
MetOSiteiQ15526
PhosphoSitePlusiQ15526

Genetic variation databases

BioMutaiSURF1
DMDMi2498973

Proteomic databases

EPDiQ15526
jPOSTiQ15526
MassIVEiQ15526
MaxQBiQ15526
PaxDbiQ15526
PeptideAtlasiQ15526
PRIDEiQ15526
ProteomicsDBi60616 [Q15526-1]
60617 [Q15526-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		18363, 164 antibodies

The DNASU plasmid repository

More...DNASUi		6834

Genome annotation databases

EnsembliENST00000371974; ENSP00000361042; ENSG00000148290 [Q15526-1]
ENST00000626663; ENSP00000487158; ENSG00000280627 [Q15526-1]
GeneIDi6834
KEGGihsa:6834
UCSCiuc004cdh.3, human [Q15526-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6834
DisGeNETi6834

GeneCards: human genes, protein and diseases

More...GeneCardsi		SURF1
GeneReviewsiSURF1
HGNCiHGNC:11474, SURF1
HPAiENSG00000148290, Low tissue specificity
MalaCardsiSURF1
MIMi185620, gene
220110, phenotype
616684, phenotype
neXtProtiNX_Q15526
OpenTargetsiENSG00000148290
Orphaneti70474, Leigh syndrome with cardiomyopathy
255241, Leigh syndrome with leukodystrophy
391351, SURF1-related Charcot-Marie-Tooth disease type 4
PharmGKBiPA36259
VEuPathDBiHostDB:ENSG00000148290.9

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1563, Eukaryota
GeneTreeiENSGT00530000064194
InParanoidiQ15526
OMAiWYSRDVA
PhylomeDBiQ15526
TreeFamiTF314684

Enzyme and pathway databases

PathwayCommonsiQ15526
ReactomeiR-HSA-5628897, TP53 Regulates Metabolic Genes
R-HSA-611105, Respiratory electron transport
SIGNORiQ15526

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6834, 42 hits in 993 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SURF1

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

More...GenomeRNAii		6834
PharosiQ15526, Tbio

Protein Ontology

More...PROi		PR:Q15526
RNActiQ15526, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000148290, Expressed in parotid gland and 239 other tissues
ExpressionAtlasiQ15526, baseline and differential
GenevisibleiQ15526, HS

Family and domain databases

CDDicd06662, SURF1, 1 hit
InterProiView protein in InterPro
IPR002994, Surf1/Shy1
PfamiView protein in Pfam
PF02104, SURF1, 1 hit
PROSITEiView protein in PROSITE
PS50895, SURF1, 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 nameiSURF1_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: Q15526
Secondary accession number(s): Q5T8T3, Q5T8T4
<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: November 1, 1997
Last sequence update: November 1, 1996
Last modified: April 7, 2021
This is version 169 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 9
    Human chromosome 9: 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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