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UniProtKB - Q9Y247 (FA50B_HUMAN)

Entry version 117 (13 Feb 2019)
Sequence version 1 (01 Nov 1999)
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Protein

Protein FAM50B

Gene

FAM50B

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

Annotation score:4 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 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:
Protein FAM50B
Alternative name(s):
Protein XAP-5-like
<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:FAM50B
Synonyms:X5L
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000145945.5

Human Gene Nomenclature Database

More...HGNCi		HGNC:18789 FAM50B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614686 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y247

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

<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		26240

Open Targets

More...OpenTargetsi		ENSG00000145945

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134912073

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FAM50B

Domain mapping of disease mutations (DMDM)

More...DMDMi		48474710

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000682862 – 325Protein FAM50BAdd BLAST324

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 residuei2N-acetylalanineCombined sources1

<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 - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y247

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y247

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9Y247

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

More...PaxDbi		Q9Y247

PeptideAtlas

More...PeptideAtlasi		Q9Y247

PRoteomics IDEntifications database

More...PRIDEi		Q9Y247

ProteomicsDB human proteome resource

More...ProteomicsDBi		85644

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y247

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

More...PhosphoSitePlusi		Q9Y247

<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. Mostly abundant in testis and adult and fetal brain.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Imprinted. Promoter methylation of the maternal allele may restrict expression to the paternal allele in placenta.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000145945 Expressed in 205 organ(s), highest expression level in nucleus accumbens

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y247 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y247 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA064111
HPA067817

<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%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<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		117631, 17 interactors

Protein interaction database and analysis system

More...IntActi		Q9Y247, 50 interactors

Molecular INTeraction database

More...MINTi		Q9Y247

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000369625

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9Y247

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y247

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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

<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 FAM50 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2894 Eukaryota
ENOG410XNXM LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004735

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000283611

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG000678

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y247

KEGG Orthology (KO)

More...KOi		K13119

Identification of Orthologs from Complete Genome Data

More...OMAi		YKGTMRE

Database of Orthologous Groups

More...OrthoDBi		1061864at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y247

TreeFam database of animal gene trees

More...TreeFami		TF314738

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007005 XAP5

The PANTHER Classification System

More...PANTHERi		PTHR12722 PTHR12722, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF04921 XAP5, 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>.<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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

Q9Y247-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAQYKGTMRE AGRAMHLLKK RERQREQMEV LKQRIAEETI LKSQVDKRFS 
        60         70         80         90        100
AHYDAVEAEL KSSTVGLVTL NDMKARQEAL VRERERQLAK RQHLEEQRLQ 
       110        120        130        140        150
QERQREQEQR RERKRKISCL SFALDDLDDQ ADAAEARRAG NLGKNPDVDT 
       160        170        180        190        200
SFLPDRDREE EENRLREELR QEWEAQREKV KDEEMEVTFS YWDGSGHRRT 
       210        220        230        240        250
VRVRKGNTVQ QFLKKALQGL RKDFLELRSA GVEQLMFIKE DLILPHYHTF 
       260        270        280        290        300
YDFIIARARG KSGPLFSFDV HDDVRLLSDA TMEKDESHAG KVVLRSWYEK 
       310        320 
NKHIFPASRW EAYDPEKKWD KYTIR
Length:325
Mass (Da):38,709
Last modified:November 1, 1999 - 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:i9F0653C3D7236997
GO

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
Y18504 Genomic DNA Translation: CAB46273.1
Y18503 mRNA Translation: CAB46272.1
AL391422 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55142.1
BC001261 mRNA Translation: AAH01261.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4487.1

NCBI Reference Sequences

More...RefSeqi		NP_036267.1, NM_012135.2
XP_016866218.1, XM_017010729.1

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.140944
Hs.662301

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000380272; ENSP00000369625; ENSG00000145945
ENST00000380274; ENSP00000369627; ENSG00000145945
ENST00000648326; ENSP00000496837; ENSG00000145945

Database of genes from NCBI RefSeq genomes

More...GeneIDi		26240

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:26240

UCSC genome browser

More...UCSCi		uc003mvu.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
Y18504 Genomic DNA Translation: CAB46273.1
Y18503 mRNA Translation: CAB46272.1
AL391422 Genomic DNA No translation available.
CH471087 Genomic DNA Translation: EAW55142.1
BC001261 mRNA Translation: AAH01261.1
CCDSiCCDS4487.1
RefSeqiNP_036267.1, NM_012135.2
XP_016866218.1, XM_017010729.1
UniGeneiHs.140944
Hs.662301

3D structure databases

ProteinModelPortaliQ9Y247
SMRiQ9Y247
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117631, 17 interactors
IntActiQ9Y247, 50 interactors
MINTiQ9Y247
STRINGi9606.ENSP00000369625

PTM databases

iPTMnetiQ9Y247
PhosphoSitePlusiQ9Y247

Polymorphism and mutation databases

BioMutaiFAM50B
DMDMi48474710

Proteomic databases

EPDiQ9Y247
jPOSTiQ9Y247
MaxQBiQ9Y247
PaxDbiQ9Y247
PeptideAtlasiQ9Y247
PRIDEiQ9Y247
ProteomicsDBi85644

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		26240
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380272; ENSP00000369625; ENSG00000145945
ENST00000380274; ENSP00000369627; ENSG00000145945
ENST00000648326; ENSP00000496837; ENSG00000145945
GeneIDi26240
KEGGihsa:26240
UCSCiuc003mvu.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		26240
DisGeNETi26240
EuPathDBiHostDB:ENSG00000145945.5

GeneCards: human genes, protein and diseases

More...GeneCardsi		FAM50B
HGNCiHGNC:18789 FAM50B
HPAiHPA064111
HPA067817
MIMi614686 gene
neXtProtiNX_Q9Y247
OpenTargetsiENSG00000145945
PharmGKBiPA134912073

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2894 Eukaryota
ENOG410XNXM LUCA
GeneTreeiENSGT00390000004735
HOGENOMiHOG000283611
HOVERGENiHBG000678
InParanoidiQ9Y247
KOiK13119
OMAiYKGTMRE
OrthoDBi1061864at2759
PhylomeDBiQ9Y247
TreeFamiTF314738

Miscellaneous databases

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

More...GenomeRNAii		26240

Protein Ontology

More...PROi		PR:Q9Y247

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000145945 Expressed in 205 organ(s), highest expression level in nucleus accumbens
ExpressionAtlasiQ9Y247 baseline and differential
GenevisibleiQ9Y247 HS

Family and domain databases

InterProiView protein in InterPro
IPR007005 XAP5
PANTHERiPTHR12722 PTHR12722, 1 hit
PfamiView protein in Pfam
PF04921 XAP5, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiFA50B_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: Q9Y247
Secondary accession number(s): Q5T2L6
<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: October 10, 2003
Last sequence update: November 1, 1999
Last modified: February 13, 2019
This is version 117 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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