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

Yae1 domain-containing protein 1

Gene

YAE1D1

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

Functioni

GO - Biological processi

Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Yae1 domain-containing protein 1
Gene namesi
Name:YAE1D1
Synonyms:C7orf36
ORF Names:GK003
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:24857. YAE1D1.

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000241127.
PharmGKBiPA134961882.

Polymorphism and mutation databases

BioMutaiYAE1D1.
DMDMi68565323.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000895911 – 226Yae1 domain-containing protein 1Add BLAST226

Proteomic databases

EPDiQ9NRH1.
MaxQBiQ9NRH1.
PaxDbiQ9NRH1.
PeptideAtlasiQ9NRH1.
PRIDEiQ9NRH1.

PTM databases

iPTMnetiQ9NRH1.
PhosphoSitePlusiQ9NRH1.

Expressioni

Gene expression databases

BgeeiENSG00000241127.
CleanExiHS_C7orf36.
ExpressionAtlasiQ9NRH1. baseline and differential.
GenevisibleiQ9NRH1. HS.

Organism-specific databases

HPAiHPA019226.
HPA031249.

Interactioni

Protein-protein interaction databases

BioGridi121317. 25 interactors.
IntActiQ9NRH1. 23 interactors.
MINTiMINT-1373911.
STRINGi9606.ENSP00000223273.

Structurei

3D structure databases

ProteinModelPortaliQ9NRH1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiKOG4774. Eukaryota.
ENOG4111WXF. LUCA.
GeneTreeiENSGT00390000011176.
HOGENOMiHOG000252981.
HOVERGENiHBG059614.
InParanoidiQ9NRH1.
OMAiTWILEQT.
OrthoDBiEOG091G0WR7.
PhylomeDBiQ9NRH1.
TreeFamiTF333198.

Family and domain databases

InterProiIPR019191. Essential_protein_Yae1_N.
[Graphical view]
PfamiPF09811. Yae1_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: Q9NRH1-1) [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
MSWVQAASLI QGPGDKGDVF DEEADESLLA QREWQSNMQR RVKEGYRDGI
60 70 80 90 100
DAGKAVTLQQ GFNQGYKKGA EVILNYGRLR GTLSALLSWC HLHNNNSTLI
110 120 130 140 150
NKINNLLDAV GQCEEYVLKH LKSITPPSHV VDLLDSIEDM DLCHVVPAEK
160 170 180 190 200
KIDEAKDERL CENNAEFNKN CSKSHSGIDC SYVECCRTQE HAHSENPSPT
210 220
WILEQTASLV KQLGLSVDVL QHLKQL
Length:226
Mass (Da):25,299
Last modified:October 1, 2000 - v1
Checksum:i403133C215381E79
GO
Isoform 2 (identifier: Q9NRH1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     84-206: SALLSWCHLH...PSPTWILEQT → RNSTDWSLLG...NRIIIRGGHI
     207-226: Missing.

Note: No experimental confirmation available.
Show »
Length:206
Mass (Da):22,700
Checksum:iB6182474E46A6ECA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti18D → G in CAG33479 (Ref. 3) Curated1
Sequence conflicti21D → E in AAH22043 (PubMed:15489334).Curated1
Sequence conflicti214G → D in CAG33479 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02430668K → E.Corresponds to variant rs6947660dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05529584 – 206SALLS…ILEQT → RNSTDWSLLGLRAPLRSPEV GTQLLPRPLPVPGHMASGAT PKQPTELEATLLSLVPQSGR ATPRFPARLRAPGPGTPSHR RRFRRKPHRDPAAACPAWPP EAPSNSETHFSTYNRIIIRG GHI in isoform 2. 1 PublicationAdd BLAST123
Alternative sequenceiVSP_055296207 – 226Missing in isoform 2. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF226046 mRNA. Translation: AAF86946.1.
AK293511 mRNA. Translation: BAG56994.1.
CR457198 mRNA. Translation: CAG33479.1.
AC004837 Genomic DNA. No translation available.
AC011290 Genomic DNA. Translation: AAQ96864.1.
CH236951 Genomic DNA. Translation: EAL23993.1.
CH471073 Genomic DNA. Translation: EAW94120.1.
BC022043 mRNA. Translation: AAH22043.1.
CCDSiCCDS5459.1. [Q9NRH1-1]
CCDS64630.1. [Q9NRH1-2]
RefSeqiNP_001269375.1. NM_001282446.1. [Q9NRH1-2]
NP_064577.1. NM_020192.4. [Q9NRH1-1]
UniGeneiHs.72168.
Hs.83313.

Genome annotation databases

EnsembliENST00000223273; ENSP00000223273; ENSG00000241127. [Q9NRH1-1]
ENST00000432096; ENSP00000395777; ENSG00000241127. [Q9NRH1-2]
GeneIDi57002.
KEGGihsa:57002.
UCSCiuc003thc.5. human. [Q9NRH1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF226046 mRNA. Translation: AAF86946.1.
AK293511 mRNA. Translation: BAG56994.1.
CR457198 mRNA. Translation: CAG33479.1.
AC004837 Genomic DNA. No translation available.
AC011290 Genomic DNA. Translation: AAQ96864.1.
CH236951 Genomic DNA. Translation: EAL23993.1.
CH471073 Genomic DNA. Translation: EAW94120.1.
BC022043 mRNA. Translation: AAH22043.1.
CCDSiCCDS5459.1. [Q9NRH1-1]
CCDS64630.1. [Q9NRH1-2]
RefSeqiNP_001269375.1. NM_001282446.1. [Q9NRH1-2]
NP_064577.1. NM_020192.4. [Q9NRH1-1]
UniGeneiHs.72168.
Hs.83313.

3D structure databases

ProteinModelPortaliQ9NRH1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121317. 25 interactors.
IntActiQ9NRH1. 23 interactors.
MINTiMINT-1373911.
STRINGi9606.ENSP00000223273.

PTM databases

iPTMnetiQ9NRH1.
PhosphoSitePlusiQ9NRH1.

Polymorphism and mutation databases

BioMutaiYAE1D1.
DMDMi68565323.

Proteomic databases

EPDiQ9NRH1.
MaxQBiQ9NRH1.
PaxDbiQ9NRH1.
PeptideAtlasiQ9NRH1.
PRIDEiQ9NRH1.

Protocols and materials databases

DNASUi57002.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000223273; ENSP00000223273; ENSG00000241127. [Q9NRH1-1]
ENST00000432096; ENSP00000395777; ENSG00000241127. [Q9NRH1-2]
GeneIDi57002.
KEGGihsa:57002.
UCSCiuc003thc.5. human. [Q9NRH1-1]

Organism-specific databases

CTDi57002.
GeneCardsiYAE1D1.
HGNCiHGNC:24857. YAE1D1.
HPAiHPA019226.
HPA031249.
neXtProtiNX_Q9NRH1.
OpenTargetsiENSG00000241127.
PharmGKBiPA134961882.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4774. Eukaryota.
ENOG4111WXF. LUCA.
GeneTreeiENSGT00390000011176.
HOGENOMiHOG000252981.
HOVERGENiHBG059614.
InParanoidiQ9NRH1.
OMAiTWILEQT.
OrthoDBiEOG091G0WR7.
PhylomeDBiQ9NRH1.
TreeFamiTF333198.

Miscellaneous databases

ChiTaRSiYAE1D1. human.
GenomeRNAii57002.
PROiQ9NRH1.

Gene expression databases

BgeeiENSG00000241127.
CleanExiHS_C7orf36.
ExpressionAtlasiQ9NRH1. baseline and differential.
GenevisibleiQ9NRH1. HS.

Family and domain databases

InterProiIPR019191. Essential_protein_Yae1_N.
[Graphical view]
PfamiPF09811. Yae1_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiYAED1_HUMAN
AccessioniPrimary (citable) accession number: Q9NRH1
Secondary accession number(s): A4D1W4
, B4DE83, Q6IAF7, Q8WVZ5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: October 1, 2000
Last modified: November 30, 2016
This is version 98 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 7
    Human chromosome 7: 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

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.