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Protein

Protein FAM46D

Gene

FAM46D

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 FAM46D
Gene namesi
Name:FAM46D
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:28399. FAM46D.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134947605.

Polymorphism and mutation databases

BioMutaiFAM46D.
DMDMi74751253.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 389389Protein FAM46DPRO_0000259939Add
BLAST

Proteomic databases

PaxDbiQ8NEK8.
PeptideAtlasiQ8NEK8.
PRIDEiQ8NEK8.

PTM databases

iPTMnetiQ8NEK8.
PhosphoSiteiQ8NEK8.

Expressioni

Gene expression databases

BgeeiENSG00000174016.
CleanExiHS_FAM46D.
GenevisibleiQ8NEK8. HS.

Organism-specific databases

HPAiHPA059362.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
C1orf94Q6P1W53EBI-744726,EBI-946029

Protein-protein interaction databases

BioGridi127991. 2 interactions.
IntActiQ8NEK8. 2 interactions.
MINTiMINT-1474506.
STRINGi9606.ENSP00000308575.

Structurei

3D structure databases

ProteinModelPortaliQ8NEK8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the FAM46 family.Curated

Phylogenomic databases

eggNOGiKOG3852. Eukaryota.
ENOG410XTG4. LUCA.
GeneTreeiENSGT00500000044785.
HOGENOMiHOG000234733.
HOVERGENiHBG057969.
InParanoidiQ8NEK8.
OMAiPACMSEI.
OrthoDBiEOG091G06T9.
PhylomeDBiQ8NEK8.
TreeFamiTF315239.

Family and domain databases

InterProiIPR012937. DUF1693.
[Graphical view]
PfamiPF07984. NTP_transf_7. 1 hit.
[Graphical view]
SMARTiSM01153. DUF1693. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NEK8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSEIRFTNLT WDQVITLDQV LDEVIPIHGK GNFPTMEVKP KDIIHVVKDQ
60 70 80 90 100
LIGQGIIVKD ARLNGSVASY ILASHNGISY KDLDVIFGVE LPGNEEFQVV
110 120 130 140 150
KDAVLDCLLD FLPKDVKKEK LSPDIMKDAY VQKLVKVCNG HDCWSLISLS
160 170 180 190 200
NNTGKNLELK FVSSLRRQFE FSVDSFQIVL DPMLDFYSDK NAKLTKESYP
210 220 230 240 250
VVVAESMYGD FQEAMTHLQH KLICTRKPEE IRGGGLLKYC SLLVHGFKPA
260 270 280 290 300
CMSEIKNLER YMCSRFFIDF PHIEEQQKKI ESYLHNHFIG EGMTKYDYLM
310 320 330 340 350
TLHGVVNEST VCLMSYERRQ ILHLITMMAL KVLGELNILP NTQKVTCFYQ
360 370 380
PAPYFAAEAR YPIYVIPEPP PVSFQPYHPL HFRGSNGMS
Length:389
Mass (Da):44,500
Last modified:October 1, 2002 - v1
Checksum:iF7E117DF03203418
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti10 – 101T → A in AAH28710 (PubMed:15489334).Curated
Sequence conflicti382 – 3821F → L in AAH28710 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti185 – 1851D → E.2 Publications
Corresponds to variant rs1113265 [ dbSNP | Ensembl ].
VAR_028980

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK128147 mRNA. Translation: BAG54638.1.
AK313875 mRNA. Translation: BAG36603.1.
BX537938 mRNA. Translation: CAD97909.1.
AL591431 Genomic DNA. Translation: CAH69981.1.
CH471104 Genomic DNA. Translation: EAW98586.1.
BC028710 mRNA. Translation: AAH28710.1.
BC030784 mRNA. Translation: AAH30784.1.
BC034979 mRNA. Translation: AAH34979.1.
CCDSiCCDS14446.1.
RefSeqiNP_001164045.1. NM_001170574.1.
NP_689843.1. NM_152630.4.
UniGeneiHs.367959.

Genome annotation databases

EnsembliENST00000308293; ENSP00000308575; ENSG00000174016.
ENST00000538312; ENSP00000443410; ENSG00000174016.
GeneIDi169966.
KEGGihsa:169966.
UCSCiuc004edl.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK128147 mRNA. Translation: BAG54638.1.
AK313875 mRNA. Translation: BAG36603.1.
BX537938 mRNA. Translation: CAD97909.1.
AL591431 Genomic DNA. Translation: CAH69981.1.
CH471104 Genomic DNA. Translation: EAW98586.1.
BC028710 mRNA. Translation: AAH28710.1.
BC030784 mRNA. Translation: AAH30784.1.
BC034979 mRNA. Translation: AAH34979.1.
CCDSiCCDS14446.1.
RefSeqiNP_001164045.1. NM_001170574.1.
NP_689843.1. NM_152630.4.
UniGeneiHs.367959.

3D structure databases

ProteinModelPortaliQ8NEK8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127991. 2 interactions.
IntActiQ8NEK8. 2 interactions.
MINTiMINT-1474506.
STRINGi9606.ENSP00000308575.

PTM databases

iPTMnetiQ8NEK8.
PhosphoSiteiQ8NEK8.

Polymorphism and mutation databases

BioMutaiFAM46D.
DMDMi74751253.

Proteomic databases

PaxDbiQ8NEK8.
PeptideAtlasiQ8NEK8.
PRIDEiQ8NEK8.

Protocols and materials databases

DNASUi169966.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308293; ENSP00000308575; ENSG00000174016.
ENST00000538312; ENSP00000443410; ENSG00000174016.
GeneIDi169966.
KEGGihsa:169966.
UCSCiuc004edl.1. human.

Organism-specific databases

CTDi169966.
GeneCardsiFAM46D.
H-InvDBHIX0016895.
HGNCiHGNC:28399. FAM46D.
HPAiHPA059362.
neXtProtiNX_Q8NEK8.
PharmGKBiPA134947605.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3852. Eukaryota.
ENOG410XTG4. LUCA.
GeneTreeiENSGT00500000044785.
HOGENOMiHOG000234733.
HOVERGENiHBG057969.
InParanoidiQ8NEK8.
OMAiPACMSEI.
OrthoDBiEOG091G06T9.
PhylomeDBiQ8NEK8.
TreeFamiTF315239.

Miscellaneous databases

GenomeRNAii169966.
PROiQ8NEK8.

Gene expression databases

BgeeiENSG00000174016.
CleanExiHS_FAM46D.
GenevisibleiQ8NEK8. HS.

Family and domain databases

InterProiIPR012937. DUF1693.
[Graphical view]
PfamiPF07984. NTP_transf_7. 1 hit.
[Graphical view]
SMARTiSM01153. DUF1693. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiFA46D_HUMAN
AccessioniPrimary (citable) accession number: Q8NEK8
Secondary accession number(s): B2R9Q6, Q7Z3F6, Q8NHU1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: October 1, 2002
Last modified: September 7, 2016
This is version 96 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 X
    Human chromosome X: 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.