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UniProtKB - Q9P2D3 (HTR5B_HUMAN)

Entry version 144 (25 May 2022)
Sequence version 2 (04 Dec 2007)
Previous versions | rss
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Protein

HEAT repeat-containing protein 5B

Gene

HEATR5B

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 clathrin-coated vesicles (PubMed:15758025).

Component of the aftiphilin/p200/gamma-synergin complex, which plays roles in AP1G1/AP-1-mediated protein trafficking including the trafficking of transferrin from early to recycling endosomes, and the membrane trafficking of furin and the lysosomal enzyme cathepsin D between the trans-Golgi network (TGN) and endosomes (PubMed:15758025).

1 Publication

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

Complete GO annotation on QuickGO ...

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

Biological processProtein transport, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9P2D3

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9P2D3

<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:
HEAT repeat-containing protein 5B
<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:HEATR5BImported
Synonyms:KIAA1414Imported, p200Imported, p200aImported
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:29273, HEATR5B

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		619627, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9P2D3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000008869

<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

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle

<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		54497

Open Targets

More...OpenTargetsi		ENSG00000008869

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162390697

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9P2D3, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HEATR5B

Domain mapping of disease mutations (DMDM)

More...DMDMi		162416219

<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_00003119941 – 2071HEAT repeat-containing protein 5BAdd BLAST2071

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 residuei1123PhosphoserineCombined sources1
Modified residuei1563PhosphothreonineCombined sources1
Modified residuei1564PhosphoserineCombined sources1
Modified residuei1737PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9P2D3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9P2D3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9P2D3

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9P2D3

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

More...PaxDbi		Q9P2D3

PeptideAtlas

More...PeptideAtlasi		Q9P2D3

PRoteomics IDEntifications database

More...PRIDEi		Q9P2D3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83775 [Q9P2D3-1]
83776 [Q9P2D3-2]
83777 [Q9P2D3-3]

PTM databases

CarbonylDB database of protein carbonylation sites

More...CarbonylDBi		Q9P2D3

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9P2D3

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

More...PhosphoSitePlusi		Q9P2D3

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9P2D3

<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		ENSG00000008869, Expressed in left ventricle myocardium and 217 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9P2D3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9P2D3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000008869, 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

Self-associates (PubMed:15758025).

Component of the aftiphilin/p200/gamma-synergin complex, at least composed of AFTPH/aftiphilin, HEATR5B/p200a and SYNRG/gamma-synergin, which plays a role in the AP1G1/AP-1-mediated protein trafficking from early to recycling endosomes and between the trans-Golgi network (TGN) and endosomes (PubMed:15758025). Within the complex interacts with AFTPH/aftiphilin and SYNRG/gamma-synergin; the interactions are direct (PubMed:15758025).

Interacts with GGA1 (PubMed:15758025).

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		119993, 33 interactors

Protein interaction database and analysis system

More...IntActi		Q9P2D3, 12 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000233099

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9P2D3, 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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9P2D3

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

<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 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati848 – 885HEAT 1Add BLAST38
Repeati1062 – 1099HEAT 2Add BLAST38
Repeati1290 – 1327HEAT 3Add BLAST38

<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 HEATR5 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1822, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000006205

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000652_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9P2D3

Identification of Orthologs from Complete Genome Data

More...OMAi		ADTHNEE

Database of Orthologous Groups

More...OrthoDBi		71064at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9P2D3

TreeFam database of animal gene trees

More...TreeFami		TF300706

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.10.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR040108, Laa1/Sip1/HEATR5

The PANTHER Classification System

More...PANTHERi		PTHR21663, PTHR21663, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48371, SSF48371, 2 hits

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

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

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

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

Isoform 1 (identifier: Q9P2D3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MELAHSLLLN EEALAQITEA KRPVFIFEWL RFLDKVLVAA NKTDVKEKQK 
        60         70         80         90        100
KLVEQLTGLI SSSPGPPTRK LLAKNLAALY SIGDTFTVFQ TLDKCNDIIR 
       110        120        130        140        150
NKDDTAAYLP TKLAAVACVG AFYEKMGRML GSAFPETVNN LLKSLKSAES 
       160        170        180        190        200
QGRSEILMSL QKVLSGLGGA AASSHRDIYK NARSLLTDRS MAVRCAVAKC 
       210        220        230        240        250
LLELQNEAVF MWTAELENIA TLCFKALENS NYGVRVAVSK LLGTVMATAL 
       260        270        280        290        300
MPKQATVMRQ NVKRATFDEV LELMATGFLR GGSGFLKSGG EMLKVGGSVN 
       310        320        330        340        350
REVRVGVTQA YVVFVTTLGG QWLERSFATF LSHVLDLVSH PRATQTHVEA 
       360        370        380        390        400
VYSRRCVSFI LRATVGSLLG EKAQIAAAKE ICQAIGKQMK AVEAVVNDTS 
       410        420        430        440        450
GENKSGAADI AASQHVMVCA LQELGSLVQS LNATASPLIQ EASIGLLEIV 
       460        470        480        490        500
TSVLLHPSMA ARLAAAWCLR CVAVALPFQL TPFLDRCAER LNNLKTSPEA 
       510        520        530        540        550
VSGYSFAMAA LLGGVHQCPL GIPHAKGKMV VSIAEDLLRT AAQNSRLSLQ 
       560        570        580        590        600
RTQAGWLLLG ALMTLGPSVV RYHLPKMLLL WRNVFPRSLK ELEAEKARGD 
       610        620        630        640        650
SFTWQVTLEG RAGALCAMRS FVAHCPELLT EDVIRKLMTP IECAMTMMSH 
       660        670        680        690        700
IPSVMKAHGA HLKASAAMVR LRLYDILALL PPKTYEGSFN ALLRELVAEF 
       710        720        730        740        750
TLTDNSANTT TSLLRSLCHY DDSVLLGSWL QETDHKSIED QLQPNSASGS 
       760        770        780        790        800
GALEHDPSSI YLRIPAGEAV PGPLPLGVSV IDASVALFGV VFPHVSYKHR 
       810        820        830        840        850
LQMLDHFAEC VKQAKGVRQQ AVQLNIFTAV LSALKGLAEN KSTLGPEEVR 
       860        870        880        890        900
KSALTLVMGP LDNPNPILRC AAGEALGRMA QVVGEATFIA RMAQYSFDKL 
       910        920        930        940        950
KSARDVVSRT GHSLALGCLH RYVGGIGSGQ HLKTSVSILL ALAQDGTSPE 
       960        970        980        990       1000
VQTWSLHSLA LIVDSSGPMY RGYVEPTLSL VLTLLLTVPP SHTEVHQCLG 
      1010       1020       1030       1040       1050
RCLGAIITTV GPELQGNGAT TSTIRSSCLV GCAITQDHSD SLVQAAAISC 
      1060       1070       1080       1090       1100
LQQLHMFAPR HVNLSSLVPS LCVHLCSSHL LLRRAAVACL RQLAQREAAE 
      1110       1120       1130       1140       1150
VCEYAMSLAK NTGDKESSSA NVSPFAPGVS SRTDIHCRHQ GVNITETGLE 
      1160       1170       1180       1190       1200
GLLFGMLDRE TDRKLCSDIH DTLGHMLSSL AVEKLSHWLM LCKDVLAASS 
      1210       1220       1230       1240       1250
DMSTATLLSS GKDEEAEKKD EMDDDTMFTT LGEEDKSKPF VAPRWATRVF 
      1260       1270       1280       1290       1300
AADCLCRIIN LCENADQAHF DLALARSAKL RNPTNDLLVL HLSDLIRMAF 
      1310       1320       1330       1340       1350
MAATDHSNQL RMAGLQALED IIKKFASVPE PEFPGHVILE QYQANVGAAL 
      1360       1370       1380       1390       1400
RPAFSQDTPS DIIAKACQVC STWIGSGVVS DLNDLRRVHN LLVSSLDKVQ 
      1410       1420       1430       1440       1450
AGKGSSSQLY RESATTMEKL AVLKAWAEVY VVAMNIKKEA ESKPKRAIKN 
      1460       1470       1480       1490       1500
TDDDDDDCGT IDELPPDSLI TLVQPELPTL SRLWLAALKD YALLTLPAEF 
      1510       1520       1530       1540       1550
SSQLPPDGGA FYTPETIDTA RLHYRNSWAP ILHAVALWLN STGFTCSEST 
      1560       1570       1580       1590       1600
EAAAISGLQK RSTSVNLNQA SGAVGSAKSL PEINKDRMHL ILGVSIQFLC 
      1610       1620       1630       1640       1650
SPRPEEPIEH VTACLQALHT LLDSPYARVH IAEDQLIGVE LLSVLHRLLL 
      1660       1670       1680       1690       1700
TWNPSSVQLL VTGVVQQIVR AAQDYLQEKR NTLNEDDMEK EACTVLGEGG 
      1710       1720       1730       1740       1750
DSGGLIPGKS LVFATMELLM FILVRHMPHL STKVSDSPSH IATKTRLSEE 
      1760       1770       1780       1790       1800
SARLVAATVT ILSDLPSLCS PAGCMTILPT ILFLIARILK DTAIKSADNQ 
      1810       1820       1830       1840       1850
VPPPVSAALQ GIKSIVTLSM AKTEAGVQKQ WTALIRSTLA CILEYSQPED 
      1860       1870       1880       1890       1900
SVPTPDEVSM LTAIALFLWS ASNEIIGVQS LQNGCMNRFK NALNSCDPWV 
      1910       1920       1930       1940       1950
QAKCYQLLLS VFQHSNRALS TPYIHSLAPI VVEKLKAVER NRPASNIELL 
      1960       1970       1980       1990       2000
AVQEGIKVLE TLVALGEEQN RVQLLALLVP TLISYLLDEN SFASASSASK 
      2010       2020       2030       2040       2050
DLHEFALQNL MHIGPLYPHA FKTVMGAAPE LKVRLETAVR ASQASKAKAA 
      2060       2070 
ARQPAPAIHS APTIKLKTSF F
Length:2,071
Mass (Da):224,302
Last modified:December 4, 2007 - v2
<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:i5CAAD3A49BFC975E
GO
Isoform 2 (identifier: Q9P2D3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     763-768: RIPAGE → LLFLVH
     769-2071: Missing.

Show »
Length:768
Mass (Da):83,487
Checksum:i138EBB6A1D0EE5D2
GO
Isoform 3 (identifier: Q9P2D3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1684-1773: NEDDMEKEAC...DLPSLCSPAG → R

Show »
Length:1,982
Mass (Da):214,994
Checksum:i5E81D286D1D41D25
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
H7C2X3H7C2X3_HUMAN
HEAT repeat-containing protein 5B
HEATR5B
115Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91733 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti324E → G in CAD97959 (PubMed:17974005).Curated1
Sequence conflicti1640E → G in BAA91733 (PubMed:14702039).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_0373921601S → P. Corresponds to variant dbSNP:rs2302657Ensembl.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_029690763 – 768RIPAGE → LLFLVH in isoform 2. 1 Publication6
Alternative sequenceiVSP_029691769 – 2071Missing in isoform 2. 1 PublicationAdd BLAST1303
Alternative sequenceiVSP_0296921684 – 1773NEDDM…CSPAG → R in isoform 3. 1 PublicationAdd BLAST90

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
AC007404 Genomic DNA No translation available.
AC007899 Genomic DNA No translation available.
BX538008 mRNA Translation: CAD97959.1
AB037835 mRNA Translation: BAA92652.1
AK001513 mRNA Translation: BAA91733.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33181.1 [Q9P2D3-1]

NCBI Reference Sequences

More...RefSeqi		NP_061897.1, NM_019024.2 [Q9P2D3-1]
XP_011531236.1, XM_011532934.2 [Q9P2D3-1]
XP_016859867.1, XM_017004378.1 [Q9P2D3-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000233099.6; ENSP00000233099.5; ENSG00000008869.12

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54497

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54497

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000233099.6; ENSP00000233099.5; NM_019024.3; NP_061897.1

UCSC genome browser

More...UCSCi		uc002rpp.2, human [Q9P2D3-1]

Keywords - Coding sequence diversityi

Alternative splicing

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC007404 Genomic DNA No translation available.
AC007899 Genomic DNA No translation available.
BX538008 mRNA Translation: CAD97959.1
AB037835 mRNA Translation: BAA92652.1
AK001513 mRNA Translation: BAA91733.1 Different initiation.
CCDSiCCDS33181.1 [Q9P2D3-1]
RefSeqiNP_061897.1, NM_019024.2 [Q9P2D3-1]
XP_011531236.1, XM_011532934.2 [Q9P2D3-1]
XP_016859867.1, XM_017004378.1 [Q9P2D3-3]

3D structure databases

AlphaFoldDBiQ9P2D3
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi119993, 33 interactors
IntActiQ9P2D3, 12 interactors
STRINGi9606.ENSP00000233099

PTM databases

CarbonylDBiQ9P2D3
iPTMnetiQ9P2D3
PhosphoSitePlusiQ9P2D3
SwissPalmiQ9P2D3

Genetic variation databases

BioMutaiHEATR5B
DMDMi162416219

Proteomic databases

EPDiQ9P2D3
jPOSTiQ9P2D3
MassIVEiQ9P2D3
MaxQBiQ9P2D3
PaxDbiQ9P2D3
PeptideAtlasiQ9P2D3
PRIDEiQ9P2D3
ProteomicsDBi83775 [Q9P2D3-1]
83776 [Q9P2D3-2]
83777 [Q9P2D3-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		52336, 18 antibodies from 8 providers

The DNASU plasmid repository

More...DNASUi		54497

Genome annotation databases

EnsembliENST00000233099.6; ENSP00000233099.5; ENSG00000008869.12
GeneIDi54497
KEGGihsa:54497
MANE-SelectiENST00000233099.6; ENSP00000233099.5; NM_019024.3; NP_061897.1
UCSCiuc002rpp.2, human [Q9P2D3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54497
DisGeNETi54497

GeneCards: human genes, protein and diseases

More...GeneCardsi		HEATR5B
HGNCiHGNC:29273, HEATR5B
HPAiENSG00000008869, Low tissue specificity
MIMi619627, gene
neXtProtiNX_Q9P2D3
OpenTargetsiENSG00000008869
PharmGKBiPA162390697
VEuPathDBiHostDB:ENSG00000008869

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1822, Eukaryota
GeneTreeiENSGT00390000006205
HOGENOMiCLU_000652_0_0_1
InParanoidiQ9P2D3
OMAiADTHNEE
OrthoDBi71064at2759
PhylomeDBiQ9P2D3
TreeFamiTF300706

Enzyme and pathway databases

PathwayCommonsiQ9P2D3
SignaLinkiQ9P2D3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54497, 24 hits in 1074 CRISPR screens

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

More...ChiTaRSi		HEATR5B, human

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

More...GenomeRNAii		54497
PharosiQ9P2D3, Tdark

Protein Ontology

More...PROi		PR:Q9P2D3
RNActiQ9P2D3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000008869, Expressed in left ventricle myocardium and 217 other tissues
ExpressionAtlasiQ9P2D3, baseline and differential
GenevisibleiQ9P2D3, HS

Family and domain databases

Gene3Di1.25.10.10, 3 hits
InterProiView protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR040108, Laa1/Sip1/HEATR5
PANTHERiPTHR21663, PTHR21663, 1 hit
SUPFAMiSSF48371, SSF48371, 2 hits

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 nameiHTR5B_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: Q9P2D3
Secondary accession number(s): B5MDU8, Q7Z3B2, Q9NVL7
<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: December 4, 2007
Last sequence update: December 4, 2007
Last modified: May 25, 2022
This is version 144 of the entry and version 2 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 2
    Human chromosome 2: 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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