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Protein

UPF0428 protein CXorf56

Gene

CXorf56

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

Functioni

Caution

May be duplicated on chromosome 8, within an intron of the ERLIN2 gene.Curated

Names & Taxonomyi

Protein namesi
Recommended name:
UPF0428 protein CXorf56
Gene namesi
Name:CXorf56
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000018610.13
HGNCiHGNC:26239 CXorf56
MIMi301012 gene
neXtProtiNX_Q9H5V9

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

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, X-linked 107 (MRX107)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. The disease-causing mutation has been identified in one large family as a 2 base pair insertion in CXorf56 exon 2. This variant produces a premature stop codon, leading to nonsense-mediated mRNA decay.1 Publication
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.
See also OMIM:301013

Keywords - Diseasei

Mental retardation

Organism-specific databases

MalaCardsiCXorf56
MIMi301013 phenotype
OpenTargetsiENSG00000018610
Orphaneti777 X-linked non-syndromic intellectual disability
PharmGKBiPA143485444

Polymorphism and mutation databases

BioMutaiCXorf56
DMDMi74733589

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002876091 – 222UPF0428 protein CXorf56Add BLAST222

Proteomic databases

EPDiQ9H5V9
MaxQBiQ9H5V9
PaxDbiQ9H5V9
PeptideAtlasiQ9H5V9
PRIDEiQ9H5V9
ProteomicsDBi80936

PTM databases

iPTMnetiQ9H5V9
PhosphoSitePlusiQ9H5V9

Expressioni

Gene expression databases

BgeeiENSG00000018610 Expressed in 206 organ(s), highest expression level in oocyte
CleanExiHS_CXorf56
GenevisibleiQ9H5V9 HS

Organism-specific databases

HPAiHPA038245
HPA038617
HPA064831

Interactioni

Protein-protein interaction databases

BioGridi122000, 13 interactors
IntActiQ9H5V9, 10 interactors
MINTiQ9H5V9
STRINGi9606.ENSP00000360652

Structurei

3D structure databases

ProteinModelPortaliQ9H5V9
SMRiQ9H5V9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili170 – 220Sequence analysisAdd BLAST51

Sequence similaritiesi

Belongs to the UPF0428 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG4397 Eukaryota
ENOG410XRYR LUCA
GeneTreeiENSGT00390000002197
HOGENOMiHOG000007597
HOVERGENiHBG067022
InParanoidiQ9H5V9
OMAiTFVMFNA
OrthoDBiEOG091G0RR3
PhylomeDBiQ9H5V9
TreeFamiTF300272

Family and domain databases

InterProiView protein in InterPro
IPR029704 UPF0428
PANTHERiPTHR13420:SF4 PTHR13420:SF4, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9H5V9-1) [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
MPKVVSRSVV CSDTRDREEY DDGEKPLHVY YCLCGQMVLV LDCQLEKLPM
60 70 80 90 100
RPRDRSRVID AAKHAHKFCN TEDEETMYLR RPEGIERQYR KKCAKCGLPL
110 120 130 140 150
FYQSQPKNAP VTFIVDGAVV KFGQGFGKTN IYTQKQEPPK KVMMTKRTKD
160 170 180 190 200
MGKFSSVTVS TIDEEEEEIE AREVADSYAQ NAKVIEKQLE RKGMSKRRLQ
210 220
ELAELEAKKA KMKGTLIDNQ FK
Length:222
Mass (Da):25,625
Last modified:March 1, 2001 - v1
Checksum:i586CD0CE472989DF
GO
Isoform 2 (identifier: Q9H5V9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: Missing.

Show »
Length:173
Mass (Da):19,981
Checksum:iD540E84E6E7F16EC
GO
Isoform 3 (identifier: Q9H5V9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-95: Missing.

Show »
Length:208
Mass (Da):23,937
Checksum:i421BBEFED1D67123
GO

Sequence cautioni

The sequence AAB96348 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti194M → V in BAG60994 (PubMed:14702039).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0442731 – 49Missing in isoform 2. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_04427482 – 95Missing in isoform 3. 1 PublicationAdd BLAST14

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026618 mRNA Translation: BAB15510.1
AK298877 mRNA Translation: BAG60994.1
AK096297 mRNA Translation: BAG53251.1
AC004000 Genomic DNA Translation: AAB96348.1 Sequence problems.
AC004913 Genomic DNA No translation available.
AC005190 Genomic DNA No translation available.
CH471161 Genomic DNA Translation: EAW89864.1
CH471161 Genomic DNA Translation: EAW89865.1
CH471161 Genomic DNA Translation: EAW89866.1
CH471161 Genomic DNA Translation: EAW89867.1
BC023506 mRNA No translation available.
CCDSiCCDS55484.1 [Q9H5V9-2]
CCDS55485.1 [Q9H5V9-3]
RefSeqiNP_001164040.1, NM_001170569.1 [Q9H5V9-2]
NP_001164041.1, NM_001170570.1 [Q9H5V9-3]
NP_071384.1, NM_022101.3 [Q9H5V9-1]
UniGeneiHs.248572

Genome annotation databases

EnsembliENST00000320339; ENSP00000320345; ENSG00000018610 [Q9H5V9-2]
ENST00000536133; ENSP00000441786; ENSG00000018610 [Q9H5V9-3]
ENST00000644802; ENSP00000494123; ENSG00000018610 [Q9H5V9-1]
GeneIDi63932
KEGGihsa:63932
UCSCiuc004erj.3 human [Q9H5V9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026618 mRNA Translation: BAB15510.1
AK298877 mRNA Translation: BAG60994.1
AK096297 mRNA Translation: BAG53251.1
AC004000 Genomic DNA Translation: AAB96348.1 Sequence problems.
AC004913 Genomic DNA No translation available.
AC005190 Genomic DNA No translation available.
CH471161 Genomic DNA Translation: EAW89864.1
CH471161 Genomic DNA Translation: EAW89865.1
CH471161 Genomic DNA Translation: EAW89866.1
CH471161 Genomic DNA Translation: EAW89867.1
BC023506 mRNA No translation available.
CCDSiCCDS55484.1 [Q9H5V9-2]
CCDS55485.1 [Q9H5V9-3]
RefSeqiNP_001164040.1, NM_001170569.1 [Q9H5V9-2]
NP_001164041.1, NM_001170570.1 [Q9H5V9-3]
NP_071384.1, NM_022101.3 [Q9H5V9-1]
UniGeneiHs.248572

3D structure databases

ProteinModelPortaliQ9H5V9
SMRiQ9H5V9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122000, 13 interactors
IntActiQ9H5V9, 10 interactors
MINTiQ9H5V9
STRINGi9606.ENSP00000360652

PTM databases

iPTMnetiQ9H5V9
PhosphoSitePlusiQ9H5V9

Polymorphism and mutation databases

BioMutaiCXorf56
DMDMi74733589

Proteomic databases

EPDiQ9H5V9
MaxQBiQ9H5V9
PaxDbiQ9H5V9
PeptideAtlasiQ9H5V9
PRIDEiQ9H5V9
ProteomicsDBi80936

Protocols and materials databases

DNASUi63932
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320339; ENSP00000320345; ENSG00000018610 [Q9H5V9-2]
ENST00000536133; ENSP00000441786; ENSG00000018610 [Q9H5V9-3]
ENST00000644802; ENSP00000494123; ENSG00000018610 [Q9H5V9-1]
GeneIDi63932
KEGGihsa:63932
UCSCiuc004erj.3 human [Q9H5V9-1]

Organism-specific databases

CTDi63932
EuPathDBiHostDB:ENSG00000018610.13
GeneCardsiCXorf56
H-InvDBiHIX0020763
HGNCiHGNC:26239 CXorf56
HPAiHPA038245
HPA038617
HPA064831
MalaCardsiCXorf56
MIMi301012 gene
301013 phenotype
neXtProtiNX_Q9H5V9
OpenTargetsiENSG00000018610
Orphaneti777 X-linked non-syndromic intellectual disability
PharmGKBiPA143485444
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4397 Eukaryota
ENOG410XRYR LUCA
GeneTreeiENSGT00390000002197
HOGENOMiHOG000007597
HOVERGENiHBG067022
InParanoidiQ9H5V9
OMAiTFVMFNA
OrthoDBiEOG091G0RR3
PhylomeDBiQ9H5V9
TreeFamiTF300272

Miscellaneous databases

GenomeRNAii63932
PROiPR:Q9H5V9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000018610 Expressed in 206 organ(s), highest expression level in oocyte
CleanExiHS_CXorf56
GenevisibleiQ9H5V9 HS

Family and domain databases

InterProiView protein in InterPro
IPR029704 UPF0428
PANTHERiPTHR13420:SF4 PTHR13420:SF4, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCX056_HUMAN
AccessioniPrimary (citable) accession number: Q9H5V9
Secondary accession number(s): A8MPX7
, B4DQN2, D3DWH9, F5GWL7, O43351
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2007
Last sequence update: March 1, 2001
Last modified: November 7, 2018
This is version 129 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. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  4. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
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