ID GGNB1_HUMAN Reviewed; 109 AA.
AC Q5YKI7; Q5YKI8;
DT 13-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 23-NOV-2004, sequence version 1.
DT 13-SEP-2023, entry version 98.
DE RecName: Full=Putative gametogenetin-binding protein 1;
GN Name=GGNBP1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
RX PubMed=15625700; DOI=10.1002/mrd.20214;
RA Zhou Y., Zhao Q., Bishop C.E., Huang P., Lu B.;
RT "Identification and characterization of a novel testicular germ cell-
RT specific gene Ggnbp1.";
RL Mol. Reprod. Dev. 70:301-307(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
CC -!- FUNCTION: May be involved in spermatogenesis. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with GGN. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm. Membrane; Peripheral membrane protein.
CC Golgi apparatus {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5YKI7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5YKI7-2; Sequence=VSP_019174;
CC -!- CAUTION: Could be the product of a pseudogene. The open reading frame
CC is disrupted by a nonsense mutation after 8 amino acids; consequently,
CC this gene is currently considered to be a unitary pseudogene in human
CC even though it is functional in other mammals. {ECO:0000305}.
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DR EMBL; AY383626; AAR26430.1; -; mRNA.
DR EMBL; AY383627; AAR26431.1; -; mRNA.
DR EMBL; Z93017; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR AlphaFoldDB; Q5YKI7; -.
DR PhosphoSitePlus; Q5YKI7; -.
DR BioMuta; HGNC:19427; -.
DR DMDM; 74708295; -.
DR PeptideAtlas; Q5YKI7; -.
DR AGR; HGNC:19427; -.
DR GeneCards; GGNBP1; -.
DR HGNC; HGNC:19427; GGNBP1.
DR MIM; 609495; gene.
DR neXtProt; NX_Q5YKI7; -.
DR InParanoid; Q5YKI7; -.
DR PhylomeDB; Q5YKI7; -.
DR ChiTaRS; GGNBP1; human.
DR Pharos; Q5YKI7; Tdark.
DR PRO; PR:Q5YKI7; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q5YKI7; Protein.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0030154; P:cell differentiation; IEA:UniProtKB-KW.
DR GO; GO:0007283; P:spermatogenesis; IEA:UniProtKB-KW.
DR InterPro; IPR028135; Ub_USP-typ.
DR Pfam; PF14836; Ubiquitin_3; 1.
PE 5: Uncertain;
KW Alternative splicing; Cytoplasm; Developmental protein; Differentiation;
KW Golgi apparatus; Membrane; Reference proteome; Spermatogenesis.
FT CHAIN 1..109
FT /note="Putative gametogenetin-binding protein 1"
FT /id="PRO_0000239345"
FT REGION 24..109
FT /note="Interaction with GGN"
FT /evidence="ECO:0000250"
FT VAR_SEQ 73..93
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15625700"
FT /id="VSP_019174"
SQ SEQUENCE 109 AA; 12309 MW; EFA13794300536DA CRC64;
MKEEDSSFKL CVPGIVALQS PPNKAFRSTD TVGFLESELK KLLGMQQESR LWKLGSQEGR
ELLTRPEITV VEGEGYEVQR RLRHLPSPIS VAQCLLLEEK GEMGNWPPE
//
