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Protein

GDNF family receptor alpha-like

Gene

GFRAL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Receptor

Names & Taxonomyi

Protein namesi
Recommended name:
GDNF family receptor alpha-like
Gene namesi
Name:GFRAL
Synonyms:C6orf144
ORF Names:UNQ9356/PRO34128
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:32789. GFRAL.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini19 – 351333ExtracellularSequence analysisAdd
BLAST
Transmembranei352 – 37120HelicalSequence analysisAdd
BLAST
Topological domaini372 – 39423CytoplasmicSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA145008357.

Polymorphism and mutation databases

BioMutaiGFRAL.
DMDMi108935991.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 1818Sequence analysisAdd
BLAST
Chaini19 – 394376GDNF family receptor alpha-likePRO_0000240124Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi23 – 231N-linked (GlcNAc...)Sequence analysis
Glycosylationi50 – 501N-linked (GlcNAc...)Sequence analysis
Glycosylationi62 – 621N-linked (GlcNAc...)Sequence analysis
Glycosylationi67 – 671N-linked (GlcNAc...)Sequence analysis
Glycosylationi103 – 1031N-linked (GlcNAc...)Sequence analysis
Glycosylationi116 – 1161N-linked (GlcNAc...)Sequence analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6UXV0.
PaxDbiQ6UXV0.
PRIDEiQ6UXV0.

Expressioni

Gene expression databases

CleanExiHS_GFRAL.

Organism-specific databases

HPAiHPA047372.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000343636.

Structurei

3D structure databases

ProteinModelPortaliQ6UXV0.
SMRiQ6UXV0. Positions 130-287.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the GDNFR family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IIJI. Eukaryota.
ENOG4111VG4. LUCA.
GeneTreeiENSGT00730000111274.
HOGENOMiHOG000112712.
HOVERGENiHBG081552.
InParanoidiQ6UXV0.
OMAiLGKKCIN.
OrthoDBiEOG7FBRJ3.
PhylomeDBiQ6UXV0.
TreeFamiTF331647.

Family and domain databases

InterProiIPR016017. GDNF/GAS1.
[Graphical view]
PfamiPF02351. GDNF. 2 hits.
[Graphical view]
SMARTiSM00907. GDNF. 3 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q6UXV0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MIVFIFLAMG LSLENEYTSQ TNNCTYLREQ CLRDANGCKH AWRVMEDACN
60 70 80 90 100
DSDPGDPCKM RNSSYCNLSI QYLVESNFQF KECLCTDDFY CTVNKLLGKK
110 120 130 140 150
CINKSDNVKE DKFKWNLTTR SHHGFKGMWS CLEVAEACVG DVVCNAQLAS
160 170 180 190 200
YLKACSANGN PCDLKQCQAA IRFFYQNIPF NIAQMLAFCD CAQSDIPCQQ
210 220 230 240 250
SKEALHSKTC AVNMVPPPTC LSVIRSCQND ELCRRHYRTF QSKCWQRVTR
260 270 280 290 300
KCHEDENCIS TLSKQDLTCS GSDDCKAAYI DILGTVLQVQ CTCRTITQSE
310 320 330 340 350
ESLCKIFQHM LHRKSCFNYP TLSNVKGMAL YTRKHANKIT LTGFHSPFNG
360 370 380 390
EVIYAAMCMT VTCGILLLVM VKLRTSRISS KARDPSSIQI PGEL
Length:394
Mass (Da):44,518
Last modified:June 13, 2006 - v2
Checksum:i641ED7D67CF87428
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti33 – 331R → C.
Corresponds to variant rs12199003 [ dbSNP | Ensembl ].
VAR_053105
Natural varianti195 – 1951D → H in a breast cancer sample; somatic mutation. 1 Publication
VAR_036234
Natural varianti387 – 3871S → P.1 Publication
Corresponds to variant rs9370418 [ dbSNP | Ensembl ].
VAR_053106

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358198 mRNA. Translation: AAQ88565.1.
AL592426 Genomic DNA. Translation: CAH72998.2.
CCDSiCCDS4957.1.
RefSeqiNP_997293.2. NM_207410.2.
UniGeneiHs.526967.

Genome annotation databases

EnsembliENST00000340465; ENSP00000343636; ENSG00000187871.
GeneIDi389400.
KEGGihsa:389400.
UCSCiuc003pcm.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY358198 mRNA. Translation: AAQ88565.1.
AL592426 Genomic DNA. Translation: CAH72998.2.
CCDSiCCDS4957.1.
RefSeqiNP_997293.2. NM_207410.2.
UniGeneiHs.526967.

3D structure databases

ProteinModelPortaliQ6UXV0.
SMRiQ6UXV0. Positions 130-287.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000343636.

Polymorphism and mutation databases

BioMutaiGFRAL.
DMDMi108935991.

Proteomic databases

EPDiQ6UXV0.
PaxDbiQ6UXV0.
PRIDEiQ6UXV0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340465; ENSP00000343636; ENSG00000187871.
GeneIDi389400.
KEGGihsa:389400.
UCSCiuc003pcm.1. human.

Organism-specific databases

CTDi389400.
GeneCardsiGFRAL.
H-InvDBHIX0032863.
HGNCiHGNC:32789. GFRAL.
HPAiHPA047372.
neXtProtiNX_Q6UXV0.
PharmGKBiPA145008357.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIJI. Eukaryota.
ENOG4111VG4. LUCA.
GeneTreeiENSGT00730000111274.
HOGENOMiHOG000112712.
HOVERGENiHBG081552.
InParanoidiQ6UXV0.
OMAiLGKKCIN.
OrthoDBiEOG7FBRJ3.
PhylomeDBiQ6UXV0.
TreeFamiTF331647.

Miscellaneous databases

GenomeRNAii389400.
PROiQ6UXV0.

Gene expression databases

CleanExiHS_GFRAL.

Family and domain databases

InterProiIPR016017. GDNF/GAS1.
[Graphical view]
PfamiPF02351. GDNF. 2 hits.
[Graphical view]
SMARTiSM00907. GDNF. 3 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT PRO-387.
  2. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-195.

Entry informationi

Entry nameiGFRAL_HUMAN
AccessioniPrimary (citable) accession number: Q6UXV0
Secondary accession number(s): Q5VTF6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: June 13, 2006
Last modified: July 6, 2016
This is version 84 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.