RALGAPA1
Ral GTPase-activating protein subunit alpha-1
Also known as: DKFZp667F074, GARNL1, GRIPE, KIAA0884, RalGAPalpha1, RGPA1_HUMAN, Tulip1
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6GYQ0
- Gene
- RALGAPA1
- Ensembl
- ENSG00000174373
- Chromosome
- 14
- Canonical length
- 2036 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, RAS pathway related proteins
- Subcellular location
- Mitochondria,Cytosol,Mid piece,Principal piece
OverviewNCBI Gene
This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]
Canonical amino-acid sequenceUniProt
2036 residues, UniProt reviewed canonical sequence.
>Q6GYQ0|RALGAPA1
1 MFSKKPHGDV KKSTQKVLDT KKDALTRLKH LRIVIENAES IDLKQFFDQH FSHIYYVFFE
61 NFVTIEASLK QKGHKSQREE LDAILFIFEK ILQLLPERIH QRWQFHSIGL ILKKLLHTGN
121 SLKIRREGVR LFLLWLQALQ NNCSKEQLWM FSCLIPGFSA PQSEHGPRTL DNLINPPLNL
181 QETQVTIEEI TPLVPPQSGD KGQEDLTSYF LEALLKYIVI QVKSLEWKNK ENQERGFSFL
241 FSHFKKYYLP YIFPNICKEN SLYHPILDIP QMRPKPHYVV IKKDAETNEA IYCTKEPFIK
301 ARVIVIRWLV SFWLEPKPHT GPHIPGMEGE VLPKNIQRAA ASLVSREESK NDNADKTDRT
361 TEPEQSHSNT STLTEREPSS SSLCSIDEEH LTDIEIVRRV FSSKRSNVNF VTEIFRQAFL
421 LPICEAAAMR KVVKVYQEWI QQEEKPLFMQ EPEEIVITSS DLPCIENVTD HDISMEEGEK
481 REEENGTNTA DHVRNSSWAK NGSYQGALHN ASEEATEQNI RAGTQAVLQV FIINSSNIFL
541 LEPANEIKNL LDEHTDMCKR ILNIYRYMVV QVSMDKKTWE QMLLVLLRVT ESVLKMPSQA
601 FLQFQGKKNM TLAGRLAGPL FQTLIVAWIK ANLNVYISRE LWDDLLSVLS SLTYWEELAT
661 EWSLTMETLT KVLARNLYSL DLSDLPLDKL SEQKQKKHKG KGVGHEFQKV SVDKSFSRGW
721 SRDQPGQAPM RQRSATTTGS PGTEKARSIV RQKTVDIDDA QILPRSTRVR HFSQSEETGN
781 EVFGALNEEQ PLPRSSSTSD ILEPFTVERA KVNKEDMSQK LPPLNSDIGG SSANVPDLMD
841 EFIAERLRSG NASTMTRRGS SPGSLEIPKD LPDILNKQNQ MRPIDDPGVP SEWTSPASAG
901 SSDLISSDSH SDSFSAFQYD GRKFDNFGFG TDTGVTSSAD VDSGSGHHQS AEEQEVASLT
961 TLHIDSETSS LNQQAFSAEV ATITGSESAS PVHSPLGSRS QTPSPSTLNI DHMEQKDLQL
1021 DEKLHHSVLQ TPDDLEISEF PSECCSVMAG GTLTGWHADV ATVMWRRMLG ILGDVNSIMD
1081 PEIHAQVFDY LCELWQNLAK IRDNLGISTD NLTSPSPPVL IPPLRILTPW LFKATMLTDK
1141 YKQGKLHAYK LICNTMKRRQ DVSPNRDFLT HFYNIMHCGL LHIDQDIVNT IIKHCSPQFF
1201 SLGLPGATML IMDFIVAAGR VASSAFLNAP RVEAQVLLGS LVCFPNLYCE LPSLHPNIPD
1261 VAVSQFTDVK ELIIKTVLSS ARDEPSGPAR CVALCSLGIW ICEELVHESH HPQIKEALNV
1321 ICVSLKFTNK TVAHVACNML HMLVHYVPRL QIYQPDSPLK IIQILIATIT HLLPSTEASS
1381 YEMDKRLVVS LLLCLLDWIM ALPLKTLLQP FHATGAESDK TEKSVLNCIY KVLHGCVYGA
1441 QCFSNPRYFP MSLSDLASVD YDPFMHLESL KEPEPLHSPD SERSSKLQPV TEVKTQMQHG
1501 LISIAARTVI THLVNHLGHY PMSGGPAMLT SQVCENHDNH YSESTELSPE LFESPNIQFF
1561 VLNNTTLVSC IQIRSEENMP GGGLSAGLAS ANSNVRIIVR DLSGKYSWDS AILYGPPPVS
1621 GLSEPTSFML SLSHQEKPEE PPTSNECLED ITVKDGLSLQ FKRFRETVPT WDTIRDEEDV
1681 LDELLQYLGV TSPECLQRTG ISLNIPAPQP VCISEKQEND VINAILKQHT EEKEFVEKHF
1741 NDLNMKAVEQ DEPIPQKPQS AFYYCRLLLS ILGMNSWDKR RSFHLLKKNE KLLRELRNLD
1801 SRQCRETHKI AVFYVAEGQE DKHSILTNTG GSQAYEDFVA GLGWEVNLTN HCGFMGGLQK
1861 NKSTGLTTPY FATSTVEVIF HVSTRMPSDS DDSLTKKLRH LGNDEVHIVW SEHTRDYRRG
1921 IIPTEFGDVL IVIYPMKNHM FSIQIMKKPE VPFFGPLFDG AIVNGKVLPI MVRATAINAS
1981 RALKSLIPLY QNFYEERARY LQTIVQHHLE PTTFEDFAAQ VFSPAPYHHL PSDADHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RALGAPA1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 37 nTPM
Expression across tissuesHPA
Tissue
- retina: 37 nTPM
- cerebellum: 31 nTPM
- parathyroid gland: 24 nTPM
- spinal cord: 24 nTPM
- ovary: 23 nTPM
- pituitary gland: 23 nTPM
Single-cell type
- lactotrophs: 753 nCPM
- myonuclei: 738 nCPM
- somatotrophs: 723 nCPM
- neutrophils: 683 nCPM
- thyrotrophs: 513 nCPM
- nk-cells: 494 nCPM
Immune cell
- MAIT T-cell: 0.9 nTPM
- memory CD8 T-cell: 0.9 nTPM
- T-reg: 0.8 nTPM
- gdT-cell: 0.7 nTPM
- memory CD4 T-cell: 0.7 nTPM
- naive CD8 T-cell: 0.7 nTPM
Brain region
- cerebellum: 74 nTPM
- white matter: 66 nTPM
- basal ganglia: 57 nTPM
- thalamus: 56 nTPM
- medulla oblongata: 55 nTPM
- hypothalamus: 54 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RALGAPA1.
Disease | AllUniProt
Conditions RALGAPA1 is implicated in, by any mechanism.
- Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation (NEDHRIT) MIM:618797
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 328 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation
- Feeding difficulties
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.23
- gnomAD pLI
- 1
- gnomAD missense Z
- 3.53
- DepMap mean gene effect
- -0.09
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RALGAPA1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RALGAPA1 as an antibody target. Whether an autoantibody or antibody against RALGAPA1 could matter depends on whether native RALGAPA1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RALGAPA1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label RALGAPA1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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