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Protein

Protein FAM69B

Gene

FAM69B

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 FAM69B
Gene namesi
Name:FAM69B
Synonyms:C9orf136
ORF Names:PP6977
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:28290. FAM69B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3030CytoplasmicSequence analysisAdd
BLAST
Transmembranei31 – 5121HelicalSequence analysisAdd
BLAST
Topological domaini52 – 431380LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671884.

Polymorphism and mutation databases

BioMutaiFAM69B.
DMDMi296439350.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 431431Protein FAM69BPRO_0000287231Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi57 ↔ 94Curated
Disulfide bondi62 ↔ 117Curated

Post-translational modificationi

Among the many cysteines in the lumenal domain, most are probably involved in disulfide bonds.By similarity

Keywords - PTMi

Disulfide bond

Proteomic databases

PaxDbiQ5VUD6.
PRIDEiQ5VUD6.

PTM databases

iPTMnetiQ5VUD6.
PhosphoSiteiQ5VUD6.

Expressioni

Gene expression databases

BgeeiQ5VUD6.
CleanExiHS_FAM69B.
ExpressionAtlasiQ5VUD6. baseline and differential.
GenevisibleiQ5VUD6. HS.

Organism-specific databases

HPAiHPA046812.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
SATQ6ICU93EBI-721274,EBI-10178867

Protein-protein interaction databases

BioGridi126510. 5 interactions.
IntActiQ5VUD6. 2 interactions.
STRINGi9606.ENSP00000360757.

Structurei

3D structure databases

ProteinModelPortaliQ5VUD6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi5 – 62May mediate ER retentionBy similarity

Sequence similaritiesi

Belongs to the FAM69 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IVAA. Eukaryota.
ENOG410YQ9F. LUCA.
GeneTreeiENSGT00390000006452.
HOGENOMiHOG000253951.
HOVERGENiHBG057071.
InParanoidiQ5VUD6.
OMAiVTIKCGI.
OrthoDBiEOG7PGDQK.
PhylomeDBiQ5VUD6.
TreeFamiTF313319.

Family and domain databases

InterProiIPR022049. FAM69_kinase_dom.
IPR029244. FAM69_N.
[Graphical view]
PfamiPF12260. PIP49_C. 1 hit.
PF14875. PIP49_N. 1 hit.
[Graphical view]
SMARTiSM01299. PIP49_N. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5VUD6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRRLRRLAHL VLFCPFSKRL QGRLPGLRVR CIFLAWLGVF AGSWLVYVHY
60 70 80 90 100
SSYSERCRGH VCQVVICDQY RKGIISGSVC QDLCELHMVE WRTCLSVAPG
110 120 130 140 150
QQVYSGLWRD KDVTIKCGIE ETLDSKARSD AAPRRELVLF DKPTRGTSIK
160 170 180 190 200
EFREMTLSFL KANLGDLPSL PALVGQVLLM ADFNKDNRVS LAEAKSVWAL
210 220 230 240 250
LQRNEFLLLL SLQEKEHASR LLGYCGDLYL TEGVPHGAWH AAALPPLLRP
260 270 280 290 300
LLPPALQGAL QQWLGPAWPW RAKIAIGLLE FVEELFHGSY GTFYMCETTL
310 320 330 340 350
ANVGYTATYD FKMADLQQVA PEATVRRFLQ GRRCEHSTDC TYGRDCRAPC
360 370 380 390 400
DRLMRQCKGD LIQPNLAKVC ALLRGYLLPG APADLREELG TQLRTCTTLS
410 420 430
GLASQVEAHH SLVLSHLKTL LWKKISNTKY S
Length:431
Mass (Da):48,583
Last modified:May 18, 2010 - v3
Checksum:i8CB446F094866388
GO
Isoform 2 (identifier: Q5VUD6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-87: Missing.

Show »
Length:344
Mass (Da):38,473
Checksum:iCF875343CFE873C5
GO

Sequence cautioni

The sequence AAL55862.1 differs from that shown. Reason: Frameshift at positions 341 and 393. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti380 – 3801G → C in AAL55862 (PubMed:15498874).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti158 – 1581S → G.3 Publications
Corresponds to variant rs945384 [ dbSNP | Ensembl ].
VAR_032295

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8787Missing in isoform 2. 1 PublicationVSP_025405Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF318355 mRNA. Translation: AAL55862.1. Frameshift.
AL590226, AL355987 Genomic DNA. Translation: CAH71724.1.
AL590226, AL355987 Genomic DNA. Translation: CAH71725.1.
AL355987, AL590226 Genomic DNA. Translation: CAI12696.1.
AL355987, AL590226 Genomic DNA. Translation: CAI12700.1.
CH471090 Genomic DNA. Translation: EAW88253.1.
BC032097 mRNA. Translation: AAH32097.1.
CCDSiCCDS7004.1. [Q5VUD6-1]
RefSeqiNP_689634.2. NM_152421.3. [Q5VUD6-1]
UniGeneiHs.741305.

Genome annotation databases

EnsembliENST00000371691; ENSP00000360756; ENSG00000165716. [Q5VUD6-2]
ENST00000371692; ENSP00000360757; ENSG00000165716. [Q5VUD6-1]
GeneIDi138311.
KEGGihsa:138311.
UCSCiuc004cik.4. human. [Q5VUD6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF318355 mRNA. Translation: AAL55862.1. Frameshift.
AL590226, AL355987 Genomic DNA. Translation: CAH71724.1.
AL590226, AL355987 Genomic DNA. Translation: CAH71725.1.
AL355987, AL590226 Genomic DNA. Translation: CAI12696.1.
AL355987, AL590226 Genomic DNA. Translation: CAI12700.1.
CH471090 Genomic DNA. Translation: EAW88253.1.
BC032097 mRNA. Translation: AAH32097.1.
CCDSiCCDS7004.1. [Q5VUD6-1]
RefSeqiNP_689634.2. NM_152421.3. [Q5VUD6-1]
UniGeneiHs.741305.

3D structure databases

ProteinModelPortaliQ5VUD6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126510. 5 interactions.
IntActiQ5VUD6. 2 interactions.
STRINGi9606.ENSP00000360757.

PTM databases

iPTMnetiQ5VUD6.
PhosphoSiteiQ5VUD6.

Polymorphism and mutation databases

BioMutaiFAM69B.
DMDMi296439350.

Proteomic databases

PaxDbiQ5VUD6.
PRIDEiQ5VUD6.

Protocols and materials databases

DNASUi138311.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371691; ENSP00000360756; ENSG00000165716. [Q5VUD6-2]
ENST00000371692; ENSP00000360757; ENSG00000165716. [Q5VUD6-1]
GeneIDi138311.
KEGGihsa:138311.
UCSCiuc004cik.4. human. [Q5VUD6-1]

Organism-specific databases

CTDi138311.
GeneCardsiFAM69B.
H-InvDBHIX0008553.
HGNCiHGNC:28290. FAM69B.
HPAiHPA046812.
MIMi614543. gene.
neXtProtiNX_Q5VUD6.
PharmGKBiPA142671884.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IVAA. Eukaryota.
ENOG410YQ9F. LUCA.
GeneTreeiENSGT00390000006452.
HOGENOMiHOG000253951.
HOVERGENiHBG057071.
InParanoidiQ5VUD6.
OMAiVTIKCGI.
OrthoDBiEOG7PGDQK.
PhylomeDBiQ5VUD6.
TreeFamiTF313319.

Miscellaneous databases

ChiTaRSiFAM69B. human.
GenomeRNAii138311.
NextBioi83781.
PROiQ5VUD6.
SOURCEiSearch...

Gene expression databases

BgeeiQ5VUD6.
CleanExiHS_FAM69B.
ExpressionAtlasiQ5VUD6. baseline and differential.
GenevisibleiQ5VUD6. HS.

Family and domain databases

InterProiIPR022049. FAM69_kinase_dom.
IPR029244. FAM69_N.
[Graphical view]
PfamiPF12260. PIP49_C. 1 hit.
PF14875. PIP49_N. 1 hit.
[Graphical view]
SMARTiSM01299. PIP49_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Large-scale cDNA transfection screening for genes related to cancer development and progression."
    Wan D., Gong Y., Qin W., Zhang P., Li J., Wei L., Zhou X., Li H., Qiu X., Zhong F., He L., Yu J., Yao G., Jiang H., Qian L., Yu Y., Shu H., Chen X.
    , Xu H., Guo M., Pan Z., Chen Y., Ge C., Yang S., Gu J.
    Proc. Natl. Acad. Sci. U.S.A. 101:15724-15729(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLY-158.
  2. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLY-158.
  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] (ISOFORM 1), VARIANT GLY-158.
    Tissue: Brain.

Entry informationi

Entry nameiFA69B_HUMAN
AccessioniPrimary (citable) accession number: Q5VUD6
Secondary accession number(s): Q5VUD7, Q8N5N0, Q8WYU5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: May 18, 2010
Last modified: May 11, 2016
This is version 90 of the entry and version 3 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 9
    Human chromosome 9: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. 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.