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UniProtKB - Q9Y512 (SAM50_HUMAN)

Entry version 175 (29 Sep 2021)
Sequence version 3 (28 Nov 2006)
Previous versions | rss
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Protein

Sorting and assembly machinery component 50 homolog

Gene

SAMM50

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

Plays a crucial role in the maintenance of the structure of mitochondrial cristae and the proper assembly of the mitochondrial respiratory chain complexes (PubMed:22252321, PubMed:25781180).

Required for the assembly of TOMM40 into the TOM complex (PubMed:15644312).

3 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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y512

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1268020, Mitochondrial protein import
R-HSA-8949613, Cristae formation
R-HSA-9013404, RAC2 GTPase cycle

Protein family/group databases

Transport Classification Database

More...TCDBi		1.B.33.3.4, the outer membrane protein insertion porin (bam complex) (ompip) family

<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_and_taxonomy_section">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:
Sorting and assembly machinery component 50 homolog
Alternative name(s):
Transformation-related gene 3 protein
Short name:
TRG-3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:SAMM50
Synonyms:SAM50
ORF Names:CGI-51, TRG3
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 22

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24276, SAMM50

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612058, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y512

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000100347

<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

<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

Cytoplasm, Membrane, Mitochondrion, Mitochondrion outer 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

Organism-specific databases

DisGeNET

More...DisGeNETi		25813

Open Targets

More...OpenTargetsi		ENSG00000100347

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670954

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y512, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SAMM50

Domain mapping of disease mutations (DMDM)

More...DMDMi		118572715

<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_00002159391 – 469Sorting and assembly machinery component 50 homologAdd BLAST469

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei255N6-methyllysineCombined sources1

Keywords - PTMi

Methylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y512

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y512

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y512

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9Y512

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

More...PaxDbi		Q9Y512

PeptideAtlas

More...PeptideAtlasi		Q9Y512

PRoteomics IDEntifications database

More...PRIDEi		Q9Y512

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86271

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9Y512, 1 site, 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y512

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

More...PhosphoSitePlusi		Q9Y512

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9Y512

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100347, Expressed in muscle of leg and 242 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y512, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100347, 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_section">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Associates with the mitochondrial contact site and cristae organizing system (MICOS) complex, composed of at least MICOS10/MIC10, CHCHD3/MIC19, CHCHD6/MIC25, APOOL/MIC27, IMMT/MIC60, APOO/MIC23/MIC26 and QIL1/MIC13 (PubMed:25781180, PubMed:25997101). This complex was also known under the names MINOS or MitOS complex. The MICOS complex associates with mitochondrial outer membrane proteins SAMM50, MTX1 and MTX2 (together described as components of the mitochondrial outer membrane sorting assembly machinery (SAM) complex) and DNAJC11, mitochondrial inner membrane protein TMEM11 and with HSPA9 (PubMed:25781180, PubMed:25997101). The MICOS and SAM complexes together with DNAJC11 are part of a large protein complex spanning both membranes termed the mitochondrial intermembrane space bridging (MIB) complex (PubMed:25997101).

Interacts with CHCHD3/MIC19 (PubMed:21081504).

Interacts with ARMC1 (PubMed:31644573).

6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117342, 144 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-6133, SAM mitochondrial sorting and assembly machinery complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9Y512

Protein interaction database and analysis system

More...IntActi		Q9Y512, 35 interactors

Molecular INTeraction database

More...MINTi		Q9Y512

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000345445

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y512, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

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 Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini45 – 125POTRAPROSITE-ProRule annotationAdd BLAST81

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 20DisorderedSequence analysisAdd BLAST20

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Its C-terminal part seems to contain many membrane-spanning sided beta-sheets, that have the potential to adopt a transmembrane beta-barrel type structure.By similarity

<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 SAM50/omp85 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane beta strand

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2602, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000011355

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_014798_3_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y512

Identification of Orthologs from Complete Genome Data

More...OMAi		YKGPDSG

Database of Orthologous Groups

More...OrthoDBi		844748at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y512

TreeFam database of animal gene trees

More...TreeFami		TF106126

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000184, Bac_surfAg_D15
IPR039910, D15-like
IPR034746, POTRA

The PANTHER Classification System

More...PANTHERi		PTHR12815, PTHR12815, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF01103, Omp85, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51779, POTRA, 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_length">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>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

Q9Y512-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MGTVHARSLE PLPSSGPDFG GLGEEAEFVE VEPEAKQEIL ENKDVVVQHV 
        60         70         80         90        100
HFDGLGRTKD DIIICEIGDV FKAKNLIEVM RKSHEAREKL LRLGIFRQVD 
       110        120        130        140        150
VLIDTCQGDD ALPNGLDVTF EVTELRRLTG SYNTMVGNNE GSMVLGLKLP 
       160        170        180        190        200
NLLGRAEKVT FQFSYGTKET SYGLSFFKPR PGNFERNFSV NLYKVTGQFP 
       210        220        230        240        250
WSSLRETDRG MSAEYSFPIW KTSHTVKWEG VWRELGCLSR TASFAVRKES 
       260        270        280        290        300
GHSLKSSLSH AMVIDSRNSS ILPRRGALLK VNQELAGYTG GDVSFIKEDF 
       310        320        330        340        350
ELQLNKQLIF DSVFSASFWG GMLVPIGDKP SSIADRFYLG GPTSIRGFSM 
       360        370        380        390        400
HSIGPQSEGD YLGGEAYWAG GLHLYTPLPF RPGQGGFGEL FRTHFFLNAG 
       410        420        430        440        450
NLCNLNYGEG PKAHIRKLAE CIRWSYGAGI VLRLGNIARL ELNYCVPMGV 
       460 
QTGDRICDGV QFGAGIRFL
Length:469
Mass (Da):51,976
Last modified:November 28, 2006 - v3
<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:i4F686FB7ACB08DEF
GO

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 conflicti10E → G in BAD96377 (Ref. 5) Curated1
Sequence conflicti368 – 372WAGGL → LGRRW in AAD34046 (PubMed:10810093).Curated5
Sequence conflicti371Missing in AAH07830 (PubMed:15489334).Curated1

Natural variant

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_057338110D → G1 PublicationCorresponds to variant dbSNP:rs3761472Ensembl.1
Natural variantiVAR_013768345I → V2 PublicationsCorresponds to variant dbSNP:rs8418Ensembl.1

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
AF151809 mRNA Translation: AAD34046.1
AY189688 mRNA Translation: AAO85221.1
AK001087 mRNA Translation: BAA91498.1
CR456483 mRNA Translation: CAG30369.1
AK222657 mRNA Translation: BAD96377.1
AL035398 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73326.1
BC007830 mRNA Translation: AAH07830.1
BC011681 mRNA Translation: AAH11681.1
BC015200 mRNA Translation: AAH15200.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14055.1

NCBI Reference Sequences

More...RefSeqi		NP_056195.3, NM_015380.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000350028; ENSP00000345445; ENSG00000100347

Database of genes from NCBI RefSeq genomes

More...GeneIDi		25813

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:25813

UCSC genome browser

More...UCSCi		uc003bej.4, human

<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
AF151809 mRNA Translation: AAD34046.1
AY189688 mRNA Translation: AAO85221.1
AK001087 mRNA Translation: BAA91498.1
CR456483 mRNA Translation: CAG30369.1
AK222657 mRNA Translation: BAD96377.1
AL035398 Genomic DNA No translation available.
CH471138 Genomic DNA Translation: EAW73326.1
BC007830 mRNA Translation: AAH07830.1
BC011681 mRNA Translation: AAH11681.1
BC015200 mRNA Translation: AAH15200.1
CCDSiCCDS14055.1
RefSeqiNP_056195.3, NM_015380.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6YOOX-ray1.06B24-35[»]
6YOPX-ray1.10A24-39[»]
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117342, 144 interactors
ComplexPortaliCPX-6133, SAM mitochondrial sorting and assembly machinery complex
CORUMiQ9Y512
IntActiQ9Y512, 35 interactors
MINTiQ9Y512
STRINGi9606.ENSP00000345445

Protein family/group databases

TCDBi1.B.33.3.4, the outer membrane protein insertion porin (bam complex) (ompip) family

PTM databases

GlyGeniQ9Y512, 1 site, 1 O-linked glycan (1 site)
iPTMnetiQ9Y512
PhosphoSitePlusiQ9Y512
SwissPalmiQ9Y512

Genetic variation databases

BioMutaiSAMM50
DMDMi118572715

Proteomic databases

EPDiQ9Y512
jPOSTiQ9Y512
MassIVEiQ9Y512
MaxQBiQ9Y512
PaxDbiQ9Y512
PeptideAtlasiQ9Y512
PRIDEiQ9Y512
ProteomicsDBi86271

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27584, 178 antibodies

The DNASU plasmid repository

More...DNASUi		25813

Genome annotation databases

EnsembliENST00000350028; ENSP00000345445; ENSG00000100347
GeneIDi25813
KEGGihsa:25813
UCSCiuc003bej.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		25813
DisGeNETi25813

GeneCards: human genes, protein and diseases

More...GeneCardsi		SAMM50
HGNCiHGNC:24276, SAMM50
HPAiENSG00000100347, Low tissue specificity
MIMi612058, gene
neXtProtiNX_Q9Y512
OpenTargetsiENSG00000100347
PharmGKBiPA142670954
VEuPathDBiHostDB:ENSG00000100347

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2602, Eukaryota
GeneTreeiENSGT00390000011355
HOGENOMiCLU_014798_3_0_1
InParanoidiQ9Y512
OMAiYKGPDSG
OrthoDBi844748at2759
PhylomeDBiQ9Y512
TreeFamiTF106126

Enzyme and pathway databases

PathwayCommonsiQ9Y512
ReactomeiR-HSA-1268020, Mitochondrial protein import
R-HSA-8949613, Cristae formation
R-HSA-9013404, RAC2 GTPase cycle

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		25813, 501 hits in 1024 CRISPR screens

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

More...ChiTaRSi		SAMM50, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SAMM50

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

More...GenomeRNAii		25813
PharosiQ9Y512, Tbio

Protein Ontology

More...PROi		PR:Q9Y512
RNActiQ9Y512, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100347, Expressed in muscle of leg and 242 other tissues
GenevisibleiQ9Y512, HS

Family and domain databases

InterProiView protein in InterPro
IPR000184, Bac_surfAg_D15
IPR039910, D15-like
IPR034746, POTRA
PANTHERiPTHR12815, PTHR12815, 1 hit
PfamiView protein in Pfam
PF01103, Omp85, 1 hit
PROSITEiView protein in PROSITE
PS51779, POTRA, 1 hit

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 nameiSAM50_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: Q9Y512
Secondary accession number(s): Q53HC4
, Q56VW7, Q969Y9, Q96I46, Q9NW85, Q9UQM9
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: November 28, 2006
Last modified: September 29, 2021
This is version 175 of the entry and version 3 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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