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Entry version 100 (08 May 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Protein FAM53A

Gene

FAM53A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation 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>
-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

May play an important role in neural development; the dorsomedial roof of the third ventricle.By similarity

<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 FAM53ACurated
Alternative name(s):
Dorsal neural-tube nuclear proteinBy similarity
<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:FAM53AImported
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:31860 FAM53A

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6NSI3

<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 & Seán O’Donoghue; Source: COMPARTMENTS

<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

Nucleus

<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
152877

Open Targets

More...
OpenTargetsi
ENSG00000174137

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671887

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAM53A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74736712

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002616281 – 398Protein FAM53AAdd BLAST398

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 residuei125PhosphoserineCombined sources1
Modified residuei301PhosphoserineBy similarity1
Modified residuei304PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

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

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PaxDbi
Q6NSI3

PeptideAtlas

More...
PeptideAtlasi
Q6NSI3

PRoteomics IDEntifications database

More...
PRIDEi
Q6NSI3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
66629

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6NSI3

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

More...
PhosphoSitePlusi
Q6NSI3

<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
ENSG00000174137 Expressed in 155 organ(s), highest expression level in right testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6NSI3 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6NSI3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036452
HPA058138

<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
127470, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000310057

<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

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi268 – 276Nuclear localization signalSequence analysis9

<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 FAM53 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410II6P Eukaryota
ENOG410ZSMG LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063371

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000059662

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6NSI3

Identification of Orthologs from Complete Genome Data

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OMAi
EGIFPLD

Database of Orthologous Groups

More...
OrthoDBi
1614405at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6NSI3

TreeFam database of animal gene trees

More...
TreeFami
TF332095

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029356 FAM53

The PANTHER Classification System

More...
PANTHERi
PTHR28567 PTHR28567, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15242 FAM53, 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>Sequence (1+)i

<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.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q6NSI3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVTLITEKLQ SQSLDDLTCK AEAGPLQYSA ETLNKSGRLF PLELNDQSPW
60 70 80 90 100
KVFSGGPPVR SQAATGPDFS FLPGLSAAAH TMGLQWQPQS PRPGAGLGAA
110 120 130 140 150
STVDPSESTG SSTAPPTKRH CRSLSEPEEL VRCRSPWRPG SSKVWTPVSK
160 170 180 190 200
RRCDSGGSAT RQGSPGAVLP RSAVWSTGPT SPATPRPSSA SGGFVDSSEG
210 220 230 240 250
SAGSGPLWCS AESCLPSTRR RPSLSQERLA GAGTPLPWAS SSPTSTPALG
260 270 280 290 300
GRRGLLRCRS QPCVLSGKRS RRKRRREEDA RWTRPSLDFL KMTQTLKNSK
310 320 330 340 350
SLCSLNYEDD DEDDTPVKTV LSSPCDSRGL PGITMPGCSQ RGLRTSPVHP
360 370 380 390
NLWASRESVT SDGSRRSSGD PRDGDSVGEE GVFPRARWEL DLEQIENN
Length:398
Mass (Da):42,585
Last modified:July 5, 2004 - 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:i045E6F7C1969CD00
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JYQ7C9JYQ7_HUMAN
Family with sequence similarity 53,...
FAM53A hCG_1818298
360Annotation 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>
C9J9E1C9J9E1_HUMAN
Protein FAM53A
FAM53A
108Annotation 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>
H0Y9F1H0Y9F1_HUMAN
Protein FAM53A
FAM53A
156Annotation 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 conflicti95A → V in BAC86205 (PubMed:14702039).Curated1

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
AK125566 mRNA Translation: BAC86205.1
BC070112 mRNA Translation: AAH70112.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS33939.1

NCBI Reference Sequences

More...
RefSeqi
NP_001013644.1, NM_001013622.3
NP_001167541.1, NM_001174070.2
NP_001284364.1, NM_001297435.1
XP_005248005.1, XM_005247948.3
XP_011511704.1, XM_011513402.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000308132; ENSP00000310057; ENSG00000174137
ENST00000461064; ENSP00000418243; ENSG00000174137
ENST00000472884; ENSP00000426260; ENSG00000174137

Database of genes from NCBI RefSeq genomes

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GeneIDi
152877

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:152877

UCSC genome browser

More...
UCSCi
uc021xkk.2 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
AK125566 mRNA Translation: BAC86205.1
BC070112 mRNA Translation: AAH70112.1
CCDSiCCDS33939.1
RefSeqiNP_001013644.1, NM_001013622.3
NP_001167541.1, NM_001174070.2
NP_001284364.1, NM_001297435.1
XP_005248005.1, XM_005247948.3
XP_011511704.1, XM_011513402.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi127470, 2 interactors
STRINGi9606.ENSP00000310057

PTM databases

iPTMnetiQ6NSI3
PhosphoSitePlusiQ6NSI3

Polymorphism and mutation databases

BioMutaiFAM53A
DMDMi74736712

Proteomic databases

PaxDbiQ6NSI3
PeptideAtlasiQ6NSI3
PRIDEiQ6NSI3
ProteomicsDBi66629

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308132; ENSP00000310057; ENSG00000174137
ENST00000461064; ENSP00000418243; ENSG00000174137
ENST00000472884; ENSP00000426260; ENSG00000174137
GeneIDi152877
KEGGihsa:152877
UCSCiuc021xkk.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
152877
DisGeNETi152877

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FAM53A
HGNCiHGNC:31860 FAM53A
HPAiHPA036452
HPA058138
neXtProtiNX_Q6NSI3
OpenTargetsiENSG00000174137
PharmGKBiPA142671887

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410II6P Eukaryota
ENOG410ZSMG LUCA
GeneTreeiENSGT00530000063371
HOGENOMiHOG000059662
InParanoidiQ6NSI3
OMAiEGIFPLD
OrthoDBi1614405at2759
PhylomeDBiQ6NSI3
TreeFamiTF332095

Miscellaneous databases

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

More...
ChiTaRSi
FAM53A human

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

More...
GenomeRNAii
152877

Protein Ontology

More...
PROi
PR:Q6NSI3

Gene expression databases

BgeeiENSG00000174137 Expressed in 155 organ(s), highest expression level in right testis
ExpressionAtlasiQ6NSI3 baseline and differential
GenevisibleiQ6NSI3 HS

Family and domain databases

InterProiView protein in InterPro
IPR029356 FAM53
PANTHERiPTHR28567 PTHR28567, 1 hit
PfamiView protein in Pfam
PF15242 FAM53, 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 nameiFA53A_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: Q6NSI3
Secondary accession number(s): Q6ZUL5
<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: November 28, 2006
Last sequence update: July 5, 2004
Last modified: May 8, 2019
This is version 100 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. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
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