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Protein

Protein FAM83F

Gene

FAM83F

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein FAM83F
Gene namesi
Name:FAM83F
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:25148. FAM83F.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671853.

Polymorphism and mutation databases

BioMutaiFAM83F.
DMDMi74760207.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 500499Protein FAM83FPRO_0000314950Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources
Modified residuei4 – 41PhosphoserineCombined sources
Modified residuei479 – 4791PhosphoserineBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ8NEG4.
MaxQBiQ8NEG4.
PaxDbiQ8NEG4.
PeptideAtlasiQ8NEG4.
PRIDEiQ8NEG4.

PTM databases

iPTMnetiQ8NEG4.
PhosphoSiteiQ8NEG4.

Expressioni

Gene expression databases

BgeeiQ8NEG4.
CleanExiHS_FAM83F.
GenevisibleiQ8NEG4. HS.

Organism-specific databases

HPAiHPA051207.

Interactioni

Protein-protein interaction databases

BioGridi125262. 2 interactions.
IntActiQ8NEG4. 1 interaction.
STRINGi9606.ENSP00000330432.

Structurei

3D structure databases

ProteinModelPortaliQ8NEG4.
SMRiQ8NEG4. Positions 146-298.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM83 family.Curated

Phylogenomic databases

eggNOGiENOG410IJIT. Eukaryota.
ENOG410YAC2. LUCA.
GeneTreeiENSGT00760000119168.
HOGENOMiHOG000112486.
HOVERGENiHBG096702.
InParanoidiQ8NEG4.
OMAiIVDAACK.
OrthoDBiEOG7PS1FB.
PhylomeDBiQ8NEG4.
TreeFamiTF330777.

Family and domain databases

InterProiIPR012461. DUF1669.
[Graphical view]
PANTHERiPTHR16181. PTHR16181. 1 hit.
PfamiPF07894. DUF1669. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

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

Isoform 1 (identifier: Q8NEG4-1) [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
MAESQLNCLD EAHVNEKVTE AQAAFYYCER RRAALEALLG GGEQAYRERL
60 70 80 90 100
KEEQLRDFLS SPERQALRAA WSPYEDAVPA ANARGKSKAK AKAPAPAPAE
110 120 130 140 150
SGESLAYWPD RSDTEVPPLD LGWTDTGFYR GVSRVTLFTH PPKDEKAPHL
160 170 180 190 200
KQVVRQMIQQ AQKVIAVVMD LFTDGDIFQD IVDAACKRRV PVYIILDEAG
210 220 230 240 250
VKYFLEMCQD LQLTDFRIRN IRVRSVTGVG FYMPMGRIKG TLSSRFLMVD
260 270 280 290 300
GDKVATGSYR FTWSSSHVDR NLLLLLTGQN VEPFDTEFRE LYAISEEVDL
310 320 330 340 350
YRQLSLAGRV GLHYSSTVAR KLINPKYALV SGCRHPPGEM MRWAARQQRE
360 370 380 390 400
AGGNPEGQEE GASGGESAWR LESFLKDLVT VEQVLPPVEP IPLGELSQKD
410 420 430 440 450
GRMVSHMHRD LKPKSREAPS RNGMGEAARG EAAPARRFSS RLFSRRAKRP
460 470 480 490 500
AAPNGMASSV STETSEVEFL TGKRPNENSS ADISGKTSPS SAKPSNCVIS
Length:500
Mass (Da):55,486
Last modified:October 1, 2002 - v1
Checksum:iDFBFB8E9F3612608
GO
Isoform 2 (identifier: Q8NEG4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-168: Missing.

Note: No experimental confirmation available.
Show »
Length:332
Mass (Da):36,796
Checksum:iF10DD427009453F2
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti349 – 3491R → W in AAH11204 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti245 – 2451R → S.
Corresponds to variant rs12330063 [ dbSNP | Ensembl ].
VAR_038134
Natural varianti353 – 3531G → S.
Corresponds to variant rs35823589 [ dbSNP | Ensembl ].
VAR_038135
Natural varianti418 – 4181A → V in a breast cancer sample; somatic mutation. 1 Publication
VAR_038136
Natural varianti436 – 4361R → G.
Corresponds to variant rs5995794 [ dbSNP | Ensembl ].
VAR_038137

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 168168Missing in isoform 2. 1 PublicationVSP_030448Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z83847, Z82206 Genomic DNA. Translation: CAI21562.1.
Z82206, Z83847 Genomic DNA. Translation: CAI42715.1.
CH471095 Genomic DNA. Translation: EAW60365.1.
BC011204 mRNA. Translation: AAH11204.1.
BC031099 mRNA. Translation: AAH31099.1.
CCDSiCCDS14000.2. [Q8NEG4-1]
RefSeqiNP_612444.2. NM_138435.2. [Q8NEG4-1]
UniGeneiHs.197680.

Genome annotation databases

EnsembliENST00000333407; ENSP00000330432; ENSG00000133477. [Q8NEG4-1]
ENST00000473717; ENSP00000476600; ENSG00000133477. [Q8NEG4-2]
GeneIDi113828.
KEGGihsa:113828.
UCSCiuc021wqa.2. human. [Q8NEG4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z83847, Z82206 Genomic DNA. Translation: CAI21562.1.
Z82206, Z83847 Genomic DNA. Translation: CAI42715.1.
CH471095 Genomic DNA. Translation: EAW60365.1.
BC011204 mRNA. Translation: AAH11204.1.
BC031099 mRNA. Translation: AAH31099.1.
CCDSiCCDS14000.2. [Q8NEG4-1]
RefSeqiNP_612444.2. NM_138435.2. [Q8NEG4-1]
UniGeneiHs.197680.

3D structure databases

ProteinModelPortaliQ8NEG4.
SMRiQ8NEG4. Positions 146-298.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125262. 2 interactions.
IntActiQ8NEG4. 1 interaction.
STRINGi9606.ENSP00000330432.

PTM databases

iPTMnetiQ8NEG4.
PhosphoSiteiQ8NEG4.

Polymorphism and mutation databases

BioMutaiFAM83F.
DMDMi74760207.

Proteomic databases

EPDiQ8NEG4.
MaxQBiQ8NEG4.
PaxDbiQ8NEG4.
PeptideAtlasiQ8NEG4.
PRIDEiQ8NEG4.

Protocols and materials databases

DNASUi113828.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333407; ENSP00000330432; ENSG00000133477. [Q8NEG4-1]
ENST00000473717; ENSP00000476600; ENSG00000133477. [Q8NEG4-2]
GeneIDi113828.
KEGGihsa:113828.
UCSCiuc021wqa.2. human. [Q8NEG4-1]

Organism-specific databases

CTDi113828.
GeneCardsiFAM83F.
H-InvDBHIX0203178.
HGNCiHGNC:25148. FAM83F.
HPAiHPA051207.
neXtProtiNX_Q8NEG4.
PharmGKBiPA142671853.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJIT. Eukaryota.
ENOG410YAC2. LUCA.
GeneTreeiENSGT00760000119168.
HOGENOMiHOG000112486.
HOVERGENiHBG096702.
InParanoidiQ8NEG4.
OMAiIVDAACK.
OrthoDBiEOG7PS1FB.
PhylomeDBiQ8NEG4.
TreeFamiTF330777.

Miscellaneous databases

GenomeRNAii113828.
PROiQ8NEG4.

Gene expression databases

BgeeiQ8NEG4.
CleanExiHS_FAM83F.
GenevisibleiQ8NEG4. HS.

Family and domain databases

InterProiIPR012461. DUF1669.
[Graphical view]
PANTHERiPTHR16181. PTHR16181. 1 hit.
PfamiPF07894. DUF1669. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORMS 1 AND 2).
    Tissue: Cervix and Testis.
  4. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-4, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  5. Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-418.

Entry informationi

Entry nameiFA83F_HUMAN
AccessioniPrimary (citable) accession number: Q8NEG4
Secondary accession number(s): Q96FD6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: October 1, 2002
Last modified: July 6, 2016
This is version 99 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 22
    Human chromosome 22: 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.