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Protein

Protein FAM217B

Gene

FAM217B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM217B
Gene namesi
Name:FAM217B
Synonyms:C20orf177
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000196227.10.
HGNCiHGNC:16170. FAM217B.

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; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000196227.
PharmGKBiPA25720.

Polymorphism and mutation databases

BioMutaiFAM217B.
DMDMi27734258.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000794851 – 383Protein FAM217BAdd BLAST383

Proteomic databases

PaxDbiQ9NTX9.
PRIDEiQ9NTX9.

PTM databases

iPTMnetiQ9NTX9.
PhosphoSitePlusiQ9NTX9.

Expressioni

Gene expression databases

BgeeiENSG00000196227.
CleanExiHS_C20orf177.
ExpressionAtlasiQ9NTX9. baseline and differential.
GenevisibleiQ9NTX9. HS.

Organism-specific databases

HPAiHPA041021.
HPA056698.

Interactioni

Protein-protein interaction databases

BioGridi122004. 11 interactors.
STRINGi9606.ENSP00000351040.

Structurei

3D structure databases

ProteinModelPortaliQ9NTX9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi293 – 296Poly-Lys4

Sequence similaritiesi

Belongs to the FAM217 family.Curated

Phylogenomic databases

eggNOGiENOG410IVFB. Eukaryota.
ENOG4112055. LUCA.
GeneTreeiENSGT00510000049414.
HOGENOMiHOG000231581.
HOVERGENiHBG051210.
InParanoidiQ9NTX9.
OMAiPFNSWDL.
OrthoDBiEOG091G0EJ7.
PhylomeDBiQ9NTX9.
TreeFamiTF337855.

Family and domain databases

InterProiView protein in InterPro
IPR029266. FAM217.
PANTHERiPTHR22145. PTHR22145. 1 hit.
PfamiView protein in Pfam
PF15344. FAM217. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9NTX9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNAGPSWNKV QHSKNSSGKR QSKSQVPHAS SQPRSSLTAV TQPTEEKLKE
60 70 80 90 100
SISPEARRKR NPLGSRCQGA SGNKLFLDFQ SMKIIKENAD EDSASDLSDS
110 120 130 140 150
ERIPIPPSPL TPPDLNLRAE EIDPVYFDLH PGQGHTKPEY YYPNFLPSPF
160 170 180 190 200
SSWDLRDMAL LLNAENKTEA VPRVGGLLGK YIDRLIQLEW LQVQTVQCEK
210 220 230 240 250
AKGGKARPPT APGTSGALKS PGRSKLIASA LSKPLPHQEG ASKSGPSRKK
260 270 280 290 300
AFHHEEIHPS HYAFETSPRP IDVLGGTRFC SQRQTLEMRT EEKKKKSSKS
310 320 330 340 350
TKLQRWDLSG SGSSSKVETS GHIRVPKQAA VILDSADSCK ASKTQAHAHP
360 370 380
RKKGKAESCG HATVSSEKKL KTNGVKQNTY KLK
Length:383
Mass (Da):42,052
Last modified:October 1, 2000 - v1
Checksum:i56E1DB8E27CD544F
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti68Q → G (PubMed:17974005).Curated1
Sequence conflicti120E → G in CAB70739 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03569195S → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_050922380Y → C. Corresponds to variant dbSNP:rs6027210Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK125073 mRNA. Translation: BAG54133.1.
AL109928 Genomic DNA. No translation available.
CH471077 Genomic DNA. Translation: EAW75424.1.
BC054002 mRNA. Translation: AAH54002.1.
AL137442 mRNA. Translation: CAB70739.2.
CCDSiCCDS13484.1.
PIRiT46282.
RefSeqiNP_001177755.1. NM_001190826.1.
NP_001177756.1. NM_001190827.1.
NP_071389.1. NM_022106.2.
UniGeneiHs.54973.
Hs.596058.

Genome annotation databases

EnsembliENST00000358293; ENSP00000351040; ENSG00000196227.
ENST00000360816; ENSP00000354056; ENSG00000196227.
GeneIDi63939.
KEGGihsa:63939.
UCSCiuc002yba.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiF217B_HUMAN
AccessioniPrimary (citable) accession number: Q9NTX9
Secondary accession number(s): B3KWH1, Q9NTA3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2003
Last sequence update: October 1, 2000
Last modified: September 27, 2017
This is version 107 of the entry and version 1 of the sequence. See 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 20
    Human chromosome 20: 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