Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Protein FAM50B

Gene

FAM50B

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM50B
Alternative name(s):
Protein XAP-5-like
Gene namesi
Name:FAM50B
Synonyms:X5L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:18789. FAM50B.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134912073.

Polymorphism and mutation databases

BioMutaiFAM50B.
DMDMi48474710.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 325324Protein FAM50BPRO_0000068286Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9Y247.
MaxQBiQ9Y247.
PaxDbiQ9Y247.
PRIDEiQ9Y247.

PTM databases

iPTMnetiQ9Y247.
PhosphoSiteiQ9Y247.

Expressioni

Tissue specificityi

Widely expressed. Mostly abundant in testis and adult and fetal brain.

Inductioni

Imprinted. Promoter methylation of the maternal allele may restrict expression to the paternal allele in placenta.1 Publication

Gene expression databases

BgeeiQ9Y247.
CleanExiHS_FAM50B.
ExpressionAtlasiQ9Y247. baseline and differential.
GenevisibleiQ9Y247. HS.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
CARD9Q9H2573EBI-742802,EBI-751319
CCDC57Q2TAC23EBI-742802,EBI-2808286
GFAPP141363EBI-742802,EBI-744302
GOLGA2Q083793EBI-742802,EBI-618309
IKZF1Q134224EBI-742802,EBI-745305
TFIP11Q9UBB93EBI-742802,EBI-1105213
TRIM37O949723EBI-742802,EBI-741602

Protein-protein interaction databases

BioGridi117631. 16 interactions.
IntActiQ9Y247. 11 interactions.
MINTiMINT-1435796.
STRINGi9606.ENSP00000369625.

Structurei

3D structure databases

ProteinModelPortaliQ9Y247.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM50 family.Curated

Phylogenomic databases

eggNOGiKOG2894. Eukaryota.
ENOG410XNXM. LUCA.
GeneTreeiENSGT00390000004735.
HOGENOMiHOG000283611.
HOVERGENiHBG000678.
InParanoidiQ9Y247.
KOiK13119.
OMAiKRFSAHY.
OrthoDBiEOG7CZK6H.
PhylomeDBiQ9Y247.
TreeFamiTF314738.

Family and domain databases

InterProiIPR007005. XAP5.
[Graphical view]
PANTHERiPTHR12722. PTHR12722. 1 hit.
PfamiPF04921. XAP5. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9Y247-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAQYKGTMRE AGRAMHLLKK RERQREQMEV LKQRIAEETI LKSQVDKRFS
60 70 80 90 100
AHYDAVEAEL KSSTVGLVTL NDMKARQEAL VRERERQLAK RQHLEEQRLQ
110 120 130 140 150
QERQREQEQR RERKRKISCL SFALDDLDDQ ADAAEARRAG NLGKNPDVDT
160 170 180 190 200
SFLPDRDREE EENRLREELR QEWEAQREKV KDEEMEVTFS YWDGSGHRRT
210 220 230 240 250
VRVRKGNTVQ QFLKKALQGL RKDFLELRSA GVEQLMFIKE DLILPHYHTF
260 270 280 290 300
YDFIIARARG KSGPLFSFDV HDDVRLLSDA TMEKDESHAG KVVLRSWYEK
310 320
NKHIFPASRW EAYDPEKKWD KYTIR
Length:325
Mass (Da):38,709
Last modified:November 1, 1999 - v1
Checksum:i9F0653C3D7236997
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y18504 Genomic DNA. Translation: CAB46273.1.
Y18503 mRNA. Translation: CAB46272.1.
AL391422 Genomic DNA. Translation: CAI13995.1.
CH471087 Genomic DNA. Translation: EAW55142.1.
BC001261 mRNA. Translation: AAH01261.1.
CCDSiCCDS4487.1.
RefSeqiNP_036267.1. NM_012135.2.
UniGeneiHs.140944.

Genome annotation databases

EnsembliENST00000380272; ENSP00000369625; ENSG00000145945.
ENST00000380274; ENSP00000369627; ENSG00000145945.
GeneIDi26240.
KEGGihsa:26240.
UCSCiuc003mvu.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y18504 Genomic DNA. Translation: CAB46273.1.
Y18503 mRNA. Translation: CAB46272.1.
AL391422 Genomic DNA. Translation: CAI13995.1.
CH471087 Genomic DNA. Translation: EAW55142.1.
BC001261 mRNA. Translation: AAH01261.1.
CCDSiCCDS4487.1.
RefSeqiNP_036267.1. NM_012135.2.
UniGeneiHs.140944.

3D structure databases

ProteinModelPortaliQ9Y247.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117631. 16 interactions.
IntActiQ9Y247. 11 interactions.
MINTiMINT-1435796.
STRINGi9606.ENSP00000369625.

PTM databases

iPTMnetiQ9Y247.
PhosphoSiteiQ9Y247.

Polymorphism and mutation databases

BioMutaiFAM50B.
DMDMi48474710.

Proteomic databases

EPDiQ9Y247.
MaxQBiQ9Y247.
PaxDbiQ9Y247.
PRIDEiQ9Y247.

Protocols and materials databases

DNASUi26240.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000380272; ENSP00000369625; ENSG00000145945.
ENST00000380274; ENSP00000369627; ENSG00000145945.
GeneIDi26240.
KEGGihsa:26240.
UCSCiuc003mvu.4. human.

Organism-specific databases

CTDi26240.
GeneCardsiFAM50B.
HGNCiHGNC:18789. FAM50B.
MIMi614686. gene.
neXtProtiNX_Q9Y247.
PharmGKBiPA134912073.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2894. Eukaryota.
ENOG410XNXM. LUCA.
GeneTreeiENSGT00390000004735.
HOGENOMiHOG000283611.
HOVERGENiHBG000678.
InParanoidiQ9Y247.
KOiK13119.
OMAiKRFSAHY.
OrthoDBiEOG7CZK6H.
PhylomeDBiQ9Y247.
TreeFamiTF314738.

Miscellaneous databases

GenomeRNAii26240.
PROiQ9Y247.
SOURCEiSearch...

Gene expression databases

BgeeiQ9Y247.
CleanExiHS_FAM50B.
ExpressionAtlasiQ9Y247. baseline and differential.
GenevisibleiQ9Y247. HS.

Family and domain databases

InterProiIPR007005. XAP5.
[Graphical view]
PANTHERiPTHR12722. PTHR12722. 1 hit.
PfamiPF04921. XAP5. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Human and mouse XAP-5 and XAP-5-like (X5L) genes: identification of an ancient functional retroposon differentially expressed in testis."
    Sedlack Z., Muenstermann E., Dhorne-Pollet S., Otto C., Bock D., Schuetz G., Poustka A.
    Genomics 61:125-132(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cervix.
  5. "Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes."
    Nakabayashi K., Trujillo A.M., Tayama C., Camprubi C., Yoshida W., Lapunzina P., Sanchez A., Soejima H., Aburatani H., Nagae G., Ogata T., Hata K., Monk D.
    Hum. Mol. Genet. 20:3188-3197(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: IMPRINTING, INDUCTION.
  6. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiFA50B_HUMAN
AccessioniPrimary (citable) accession number: Q9Y247
Secondary accession number(s): Q5T2L6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2003
Last sequence update: November 1, 1999
Last modified: June 8, 2016
This is version 100 of the entry and version 1 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.