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UniProtKB - Q6GYQ0 (RGPA1_HUMAN)

Entry version 150 (02 Dec 2020)
Sequence version 1 (19 Jul 2004)
Previous versions | rss
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Protein

Ral GTPase-activating protein subunit alpha-1

Gene

RALGAPA1

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

Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.By similarity

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionGTPase activation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q6GYQ0

<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:
Ral GTPase-activating protein subunit alpha-1
Alternative name(s):
GAP-related-interacting partner to E12
Short name:
GRIPE
GTPase-activating Rap/Ran-GAP domain-like 1
Tuberin-like protein 1
p240
<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:RALGAPA1
Synonyms:GARNL1, KIAA0884, TULIP1
<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 14

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000174373.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:17770, RALGAPA1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608884, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q6GYQ0

<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

Keywords - Cellular componenti

Cytoplasm, 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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by profound neurodevelopmental disability, muscular hypotonia, feeding abnormalities, recurrent fever episodes, infantile spasms, and moderate dysmorphic facial features. Brain imaging shows thin corpus or dysplastic corpus callosum, and additional unspecific abnormalities including gray matter heterotopias, ectopic posterior pituitary, signal abnormalities in basal ganglia, and stratum subependymale.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083728204 – 2036Missing in NEDHRIT. 1 PublicationAdd BLAST1833
Natural variantiVAR_083729376 – 2036Missing in NEDHRIT. 1 PublicationAdd BLAST1661
Natural variantiVAR_0837301076N → S in NEDHRIT; undetectable protein expression. 1 Publication1
Natural variantiVAR_0837311911 – 2036Missing in NEDHRIT. 1 PublicationAdd BLAST126

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1903N → K: Has no effect on interaction with RALGAPB but causes loss of activity. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		253959

MalaCards human disease database

More...MalaCardsi		RALGAPA1
MIMi618797, phenotype

Open Targets

More...OpenTargetsi		ENSG00000174373

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA165479278

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q6GYQ0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RALGAPA1

Domain mapping of disease mutations (DMDM)

More...DMDMi		51315850

<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_00000567531 – 2036Ral GTPase-activating protein subunit alpha-1Add BLAST2036

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 residuei711PhosphoserineCombined sources1
Modified residuei721PhosphoserineCombined sources1
Modified residuei754PhosphothreonineCombined sources1
Modified residuei773PhosphoserineCombined sources1
Modified residuei778PhosphothreonineCombined sources1
Modified residuei797PhosphoserineCombined sources1
Modified residuei860PhosphoserineCombined sources1
Modified residuei861PhosphoserineCombined sources1
Modified residuei864PhosphoserineCombined sources1
Modified residuei986PhosphoserineCombined sources1
Modified residuei990PhosphoserineCombined sources1
Modified residuei994PhosphoserineCombined sources1
Modified residuei1000PhosphoserineBy similarity1
Modified residuei1002PhosphothreonineBy similarity1
Modified residuei1004PhosphoserineBy similarity1
Modified residuei1478PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q6GYQ0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q6GYQ0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q6GYQ0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q6GYQ0

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

More...PaxDbi		Q6GYQ0

PeptideAtlas

More...PeptideAtlasi		Q6GYQ0

PRoteomics IDEntifications database

More...PRIDEi		Q6GYQ0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		66328 [Q6GYQ0-1]
66329 [Q6GYQ0-2]
66330 [Q6GYQ0-3]
66331 [Q6GYQ0-4]
66332 [Q6GYQ0-5]
66333 [Q6GYQ0-6]
7535

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q6GYQ0

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

More...PhosphoSitePlusi		Q6GYQ0

<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.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000174373, Expressed in corpus callosum and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q6GYQ0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q6GYQ0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000174373, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

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

Component of the heterodimeric RalGAP1 complex with RALGAPB. Heterodimerization is required for activity.

Interacts with the HLH region of TCF3/isoform E12 (By similarity).

By similarity

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128998, 20 interactors

Protein interaction database and analysis system

More...IntActi		Q6GYQ0, 15 interactors

Molecular INTeraction database

More...MINTi		Q6GYQ0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000302647

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q6GYQ0, 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

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

More...SMRi		Q6GYQ0

Database of comparative protein structure models

More...ModBasei		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%5Fand%5Fdomains%5Fsection">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>Domaini1796 – 2004Rap-GAPPROSITE-ProRule annotationAdd BLAST209

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>Regioni1327 – 2035Minimal domain that binds to TCF3/E12By similarityAdd BLAST709

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1716 – 1744Sequence analysisAdd BLAST29

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi379 – 382Poly-Ser4

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3686, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00950000183139

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_001676_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q6GYQ0

Database of Orthologous Groups

More...OrthoDBi		157372at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q6GYQ0

TreeFam database of animal gene trees

More...TreeFami		TF324484

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.40.50.11210, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR016024, ARM-type_fold
IPR035974, Rap/Ran-GAP_sf
IPR000331, Rap_GAP_dom
IPR027107, Tuberin/Ral-act_asu

The PANTHER Classification System

More...PANTHERi		PTHR10063, PTHR10063, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02145, Rap_GAP, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF111347, SSF111347, 1 hit
SSF48371, SSF48371, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50085, RAPGAP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (7+)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 7 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q6GYQ0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MFSKKPHGDV KKSTQKVLDT KKDALTRLKH LRIVIENAES IDLKQFFDQH 
        60         70         80         90        100
FSHIYYVFFE NFVTIEASLK QKGHKSQREE LDAILFIFEK ILQLLPERIH 
       110        120        130        140        150
QRWQFHSIGL ILKKLLHTGN SLKIRREGVR LFLLWLQALQ NNCSKEQLWM 
       160        170        180        190        200
FSCLIPGFSA PQSEHGPRTL DNLINPPLNL QETQVTIEEI TPLVPPQSGD 
       210        220        230        240        250
KGQEDLTSYF LEALLKYIVI QVKSLEWKNK ENQERGFSFL FSHFKKYYLP 
       260        270        280        290        300
YIFPNICKEN SLYHPILDIP QMRPKPHYVV IKKDAETNEA IYCTKEPFIK 
       310        320        330        340        350
ARVIVIRWLV SFWLEPKPHT GPHIPGMEGE VLPKNIQRAA ASLVSREESK 
       360        370        380        390        400
NDNADKTDRT TEPEQSHSNT STLTEREPSS SSLCSIDEEH LTDIEIVRRV 
       410        420        430        440        450
FSSKRSNVNF VTEIFRQAFL LPICEAAAMR KVVKVYQEWI QQEEKPLFMQ 
       460        470        480        490        500
EPEEIVITSS DLPCIENVTD HDISMEEGEK REEENGTNTA DHVRNSSWAK 
       510        520        530        540        550
NGSYQGALHN ASEEATEQNI RAGTQAVLQV FIINSSNIFL LEPANEIKNL 
       560        570        580        590        600
LDEHTDMCKR ILNIYRYMVV QVSMDKKTWE QMLLVLLRVT ESVLKMPSQA 
       610        620        630        640        650
FLQFQGKKNM TLAGRLAGPL FQTLIVAWIK ANLNVYISRE LWDDLLSVLS 
       660        670        680        690        700
SLTYWEELAT EWSLTMETLT KVLARNLYSL DLSDLPLDKL SEQKQKKHKG 
       710        720        730        740        750
KGVGHEFQKV SVDKSFSRGW SRDQPGQAPM RQRSATTTGS PGTEKARSIV 
       760        770        780        790        800
RQKTVDIDDA QILPRSTRVR HFSQSEETGN EVFGALNEEQ PLPRSSSTSD 
       810        820        830        840        850
ILEPFTVERA KVNKEDMSQK LPPLNSDIGG SSANVPDLMD EFIAERLRSG 
       860        870        880        890        900
NASTMTRRGS SPGSLEIPKD LPDILNKQNQ MRPIDDPGVP SEWTSPASAG 
       910        920        930        940        950
SSDLISSDSH SDSFSAFQYD GRKFDNFGFG TDTGVTSSAD VDSGSGHHQS 
       960        970        980        990       1000
AEEQEVASLT TLHIDSETSS LNQQAFSAEV ATITGSESAS PVHSPLGSRS 
      1010       1020       1030       1040       1050
QTPSPSTLNI DHMEQKDLQL DEKLHHSVLQ TPDDLEISEF PSECCSVMAG 
      1060       1070       1080       1090       1100
GTLTGWHADV ATVMWRRMLG ILGDVNSIMD PEIHAQVFDY LCELWQNLAK 
      1110       1120       1130       1140       1150
IRDNLGISTD NLTSPSPPVL IPPLRILTPW LFKATMLTDK YKQGKLHAYK 
      1160       1170       1180       1190       1200
LICNTMKRRQ DVSPNRDFLT HFYNIMHCGL LHIDQDIVNT IIKHCSPQFF 
      1210       1220       1230       1240       1250
SLGLPGATML IMDFIVAAGR VASSAFLNAP RVEAQVLLGS LVCFPNLYCE 
      1260       1270       1280       1290       1300
LPSLHPNIPD VAVSQFTDVK ELIIKTVLSS ARDEPSGPAR CVALCSLGIW 
      1310       1320       1330       1340       1350
ICEELVHESH HPQIKEALNV ICVSLKFTNK TVAHVACNML HMLVHYVPRL 
      1360       1370       1380       1390       1400
QIYQPDSPLK IIQILIATIT HLLPSTEASS YEMDKRLVVS LLLCLLDWIM 
      1410       1420       1430       1440       1450
ALPLKTLLQP FHATGAESDK TEKSVLNCIY KVLHGCVYGA QCFSNPRYFP 
      1460       1470       1480       1490       1500
MSLSDLASVD YDPFMHLESL KEPEPLHSPD SERSSKLQPV TEVKTQMQHG 
      1510       1520       1530       1540       1550
LISIAARTVI THLVNHLGHY PMSGGPAMLT SQVCENHDNH YSESTELSPE 
      1560       1570       1580       1590       1600
LFESPNIQFF VLNNTTLVSC IQIRSEENMP GGGLSAGLAS ANSNVRIIVR 
      1610       1620       1630       1640       1650
DLSGKYSWDS AILYGPPPVS GLSEPTSFML SLSHQEKPEE PPTSNECLED 
      1660       1670       1680       1690       1700
ITVKDGLSLQ FKRFRETVPT WDTIRDEEDV LDELLQYLGV TSPECLQRTG 
      1710       1720       1730       1740       1750
ISLNIPAPQP VCISEKQEND VINAILKQHT EEKEFVEKHF NDLNMKAVEQ 
      1760       1770       1780       1790       1800
DEPIPQKPQS AFYYCRLLLS ILGMNSWDKR RSFHLLKKNE KLLRELRNLD 
      1810       1820       1830       1840       1850
SRQCRETHKI AVFYVAEGQE DKHSILTNTG GSQAYEDFVA GLGWEVNLTN 
      1860       1870       1880       1890       1900
HCGFMGGLQK NKSTGLTTPY FATSTVEVIF HVSTRMPSDS DDSLTKKLRH 
      1910       1920       1930       1940       1950
LGNDEVHIVW SEHTRDYRRG IIPTEFGDVL IVIYPMKNHM FSIQIMKKPE 
      1960       1970       1980       1990       2000
VPFFGPLFDG AIVNGKVLPI MVRATAINAS RALKSLIPLY QNFYEERARY 
      2010       2020       2030 
LQTIVQHHLE PTTFEDFAAQ VFSPAPYHHL PSDADH
Length:2,036
Mass (Da):229,832
Last modified:July 19, 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:i7ADF5487908C14CB
GO
Isoform 2 (identifier: Q6GYQ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2035-2036: DH → GSYPEILPSETPTATQVDGADLASPMSPRTSKSRMSMKLRRSSGSANKS

Show »
Length:2,083
Mass (Da):234,731
Checksum:i0396D985F73CACD8
GO
Isoform 3 (identifier: Q6GYQ0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     755-755: V → VAMRSRSIGECALPSAYIRSAKSAPVLIHTSKPFLPDIVLTPLSDELS
     1036-1057: EISEFPSECCSVMAGGTLTGWH → GNISKLDIYLFSFRASVSGDHK
     1058-2036: Missing.

Show »
Length:1,104
Mass (Da):124,733
Checksum:iC473679777FB18DE
GO
Isoform 4 (identifier: Q6GYQ0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1898-2036: LRHLGNDEVH...YHHLPSDADH → MESHCVAQAG...RDGVSPCWPG

Show »
Length:1,961
Mass (Da):221,099
Checksum:i914BB0FC44C23584
GO
Isoform 5 (identifier: Q6GYQ0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2035-2036: DH → VERNAVIVLFLPKPPLENIGHLKAPTQRFYPVKLPQQRR

Show »
Length:2,073
Mass (Da):234,126
Checksum:i693F3F3BC1FB7162
GO
Isoform 6 (identifier: Q6GYQ0-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     755-755: V → VAMRSRSIGECALPSAYIRSAKSAPVLIHTSKPFLPDIVLTPLSDELS

Show »
Length:2,083
Mass (Da):234,854
Checksum:i43E1FEB75F774B33
GO
Isoform 7 (identifier: Q6GYQ0-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     812-825: VNKEDMSQKLPPLN → EAEQNATRGSTEGSVQSCNGLFWKESC

Show »
Length:2,049
Mass (Da):231,138
Checksum:i3556F0AB7752E829
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
A0A1B0GUI1A0A1B0GUI1_HUMAN
Ral GTPase-activating protein subun...
RALGAPA1
2,495Annotation 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>
H0YJB5H0YJB5_HUMAN
Ral GTPase-activating protein subun...
RALGAPA1
722Annotation 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>
H0YJ04H0YJ04_HUMAN
Ral GTPase-activating protein subun...
RALGAPA1
356Annotation 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 BAC86772 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 conflicti779G → A in BAA74907 (PubMed:10048485).Curated1
Sequence conflicti1270K → N in CAD39026 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_083728204 – 2036Missing in NEDHRIT. 1 PublicationAdd BLAST1833
Natural variantiVAR_083729376 – 2036Missing in NEDHRIT. 1 PublicationAdd BLAST1661
Natural variantiVAR_019804931T → A1 PublicationCorresponds to variant dbSNP:rs2274068Ensembl.1
Natural variantiVAR_0837301076N → S in NEDHRIT; undetectable protein expression. 1 Publication1
Natural variantiVAR_0837311911 – 2036Missing in NEDHRIT. 1 PublicationAdd BLAST126

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_011324755V → VAMRSRSIGECALPSAYIRS AKSAPVLIHTSKPFLPDIVL TPLSDELS in isoform 3 and isoform 6. 2 Publications1
Alternative sequenceiVSP_054485812 – 825VNKED…LPPLN → EAEQNATRGSTEGSVQSCNG LFWKESC in isoform 7. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_0113251036 – 1057EISEF…LTGWH → GNISKLDIYLFSFRASVSGD HK in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_0113261058 – 2036Missing in isoform 3. 1 PublicationAdd BLAST979
Alternative sequenceiVSP_0113271898 – 2036LRHLG…SDADH → MESHCVAQAGVQWHDLRSLQ LLPPRFKESSLLSLLSSWDY RCMPPHLSNFCIFSRDGVSP CWPG in isoform 4. 1 PublicationAdd BLAST139
Alternative sequenceiVSP_0113282035 – 2036DH → GSYPEILPSETPTATQVDGA DLASPMSPRTSKSRMSMKLR RSSGSANKS in isoform 2. 2 Publications2
Alternative sequenceiVSP_0113292035 – 2036DH → VERNAVIVLFLPKPPLENIG HLKAPTQRFYPVKLPQQRR in isoform 5. 1 Publication2

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
AY596970 mRNA Translation: AAT49271.1
AY596971 mRNA Translation: AAT49272.1
AB511280 mRNA Translation: BAH83561.1
AB020691 mRNA Translation: BAA74907.1
AL137818 Genomic DNA No translation available.
AL160231 Genomic DNA No translation available.
AL162311 Genomic DNA No translation available.
BC042013 mRNA Translation: AAH42013.1
BC042045 mRNA Translation: AAH42045.1
BC150596 mRNA Translation: AAI50597.1
AL834362 mRNA Translation: CAD39026.1
AK126975 mRNA Translation: BAC86772.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32064.1 [Q6GYQ0-2]
CCDS32065.1 [Q6GYQ0-1]
CCDS61439.1 [Q6GYQ0-7]
CCDS61440.1 [Q6GYQ0-6]

NCBI Reference Sequences

More...RefSeqi		NP_001269972.1, NM_001283043.2 [Q6GYQ0-7]
NP_001269973.1, NM_001283044.2 [Q6GYQ0-6]
NP_001317004.1, NM_001330075.2
NP_001333172.1, NM_001346243.1 [Q6GYQ0-1]
NP_001333174.1, NM_001346245.1 [Q6GYQ0-6]
NP_001333175.1, NM_001346246.1
NP_001333176.1, NM_001346247.1
NP_001333177.1, NM_001346248.1
NP_001333178.1, NM_001346249.1
NP_055805.1, NM_014990.2 [Q6GYQ0-1]
NP_919277.2, NM_194301.3 [Q6GYQ0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000307138; ENSP00000302647; ENSG00000174373 [Q6GYQ0-2]
ENST00000382366; ENSP00000371803; ENSG00000174373 [Q6GYQ0-7]
ENST00000389698; ENSP00000374348; ENSG00000174373 [Q6GYQ0-1]
ENST00000553892; ENSP00000451877; ENSG00000174373 [Q6GYQ0-6]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		253959

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:253959

UCSC genome browser

More...UCSCi		uc001wti.3, human [Q6GYQ0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AY596970 mRNA Translation: AAT49271.1
AY596971 mRNA Translation: AAT49272.1
AB511280 mRNA Translation: BAH83561.1
AB020691 mRNA Translation: BAA74907.1
AL137818 Genomic DNA No translation available.
AL160231 Genomic DNA No translation available.
AL162311 Genomic DNA No translation available.
BC042013 mRNA Translation: AAH42013.1
BC042045 mRNA Translation: AAH42045.1
BC150596 mRNA Translation: AAI50597.1
AL834362 mRNA Translation: CAD39026.1
AK126975 mRNA Translation: BAC86772.1 Different initiation.
CCDSiCCDS32064.1 [Q6GYQ0-2]
CCDS32065.1 [Q6GYQ0-1]
CCDS61439.1 [Q6GYQ0-7]
CCDS61440.1 [Q6GYQ0-6]
RefSeqiNP_001269972.1, NM_001283043.2 [Q6GYQ0-7]
NP_001269973.1, NM_001283044.2 [Q6GYQ0-6]
NP_001317004.1, NM_001330075.2
NP_001333172.1, NM_001346243.1 [Q6GYQ0-1]
NP_001333174.1, NM_001346245.1 [Q6GYQ0-6]
NP_001333175.1, NM_001346246.1
NP_001333176.1, NM_001346247.1
NP_001333177.1, NM_001346248.1
NP_001333178.1, NM_001346249.1
NP_055805.1, NM_014990.2 [Q6GYQ0-1]
NP_919277.2, NM_194301.3 [Q6GYQ0-2]

3D structure databases

SMRiQ6GYQ0
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi128998, 20 interactors
IntActiQ6GYQ0, 15 interactors
MINTiQ6GYQ0
STRINGi9606.ENSP00000302647

PTM databases

iPTMnetiQ6GYQ0
PhosphoSitePlusiQ6GYQ0

Polymorphism and mutation databases

BioMutaiRALGAPA1
DMDMi51315850

Proteomic databases

EPDiQ6GYQ0
jPOSTiQ6GYQ0
MassIVEiQ6GYQ0
MaxQBiQ6GYQ0
PaxDbiQ6GYQ0
PeptideAtlasiQ6GYQ0
PRIDEiQ6GYQ0
ProteomicsDBi66328 [Q6GYQ0-1]
66329 [Q6GYQ0-2]
66330 [Q6GYQ0-3]
66331 [Q6GYQ0-4]
66332 [Q6GYQ0-5]
66333 [Q6GYQ0-6]
7535

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		79, 76 antibodies

The DNASU plasmid repository

More...DNASUi		253959

Genome annotation databases

EnsembliENST00000307138; ENSP00000302647; ENSG00000174373 [Q6GYQ0-2]
ENST00000382366; ENSP00000371803; ENSG00000174373 [Q6GYQ0-7]
ENST00000389698; ENSP00000374348; ENSG00000174373 [Q6GYQ0-1]
ENST00000553892; ENSP00000451877; ENSG00000174373 [Q6GYQ0-6]
GeneIDi253959
KEGGihsa:253959
UCSCiuc001wti.3, human [Q6GYQ0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		253959
DisGeNETi253959
EuPathDBiHostDB:ENSG00000174373.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		RALGAPA1
HGNCiHGNC:17770, RALGAPA1
HPAiENSG00000174373, Low tissue specificity
MalaCardsiRALGAPA1
MIMi608884, gene
618797, phenotype
neXtProtiNX_Q6GYQ0
OpenTargetsiENSG00000174373
PharmGKBiPA165479278

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3686, Eukaryota
GeneTreeiENSGT00950000183139
HOGENOMiCLU_001676_0_0_1
InParanoidiQ6GYQ0
OrthoDBi157372at2759
PhylomeDBiQ6GYQ0
TreeFamiTF324484

Enzyme and pathway databases

PathwayCommonsiQ6GYQ0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		253959, 20 hits in 853 CRISPR screens

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

More...ChiTaRSi		RALGAPA1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		GARNL1

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

More...GenomeRNAii		253959
PharosiQ6GYQ0, Tbio

Protein Ontology

More...PROi		PR:Q6GYQ0
RNActiQ6GYQ0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000174373, Expressed in corpus callosum and 238 other tissues
ExpressionAtlasiQ6GYQ0, baseline and differential
GenevisibleiQ6GYQ0, HS

Family and domain databases

Gene3Di3.40.50.11210, 1 hit
InterProiView protein in InterPro
IPR016024, ARM-type_fold
IPR035974, Rap/Ran-GAP_sf
IPR000331, Rap_GAP_dom
IPR027107, Tuberin/Ral-act_asu
PANTHERiPTHR10063, PTHR10063, 1 hit
PfamiView protein in Pfam
PF02145, Rap_GAP, 1 hit
SUPFAMiSSF111347, SSF111347, 1 hit
SSF48371, SSF48371, 1 hit
PROSITEiView protein in PROSITE
PS50085, RAPGAP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRGPA1_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: Q6GYQ0
Secondary accession number(s): A6NMA4
, B9EK38, C5NU19, O94960, Q6GYP9, Q6ZT23, Q86YF3, Q86YF5, Q8ND69
<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: August 16, 2004
Last sequence update: July 19, 2004
Last modified: December 2, 2020
This is version 150 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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