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Protein

Zinc finger MYND domain-containing protein 10

Gene

ZMYND10

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

Functioni

Plays a role in axonemal structure organization and motility (PubMed:23891469, PubMed:23891471). Involved in axonemal pre-assembly of inner and outer dynein arms (IDA and ODA, respectively) for proper axoneme building for cilia motility (By similarity). May act by indirectly regulating transcription of dynein proteins (By similarity).By similarity2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri394 – 430MYND-typePROSITE-ProRule annotationAdd BLAST37

GO - Molecular functioni

GO - Biological processi

Keywordsi

LigandMetal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc finger MYND domain-containing protein 10Curated
Alternative name(s):
Protein BLu1 Publication
Gene namesi
Name:ZMYND10Imported
Synonyms:BLU1 Publication
ORF Names:LUCA12.4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000004838.13
HGNCiHGNC:19412 ZMYND10
MIMi607070 gene
neXtProtiNX_O75800

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

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 22 (CILD22)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
See also OMIM:615444
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07018416V → G in CILD22; no loss of interaction with LRRC6. 2 PublicationsCorresponds to variant dbSNP:rs138815960EnsemblClinVar.1
Natural variantiVAR_07018529S → P in CILD22; no loss of interaction with LRRC6. 1 PublicationCorresponds to variant dbSNP:rs587621539EnsemblClinVar.1
Natural variantiVAR_07018639L → P in CILD22. 1 Publication1
Natural variantiVAR_070187266L → P in CILD22. 1 PublicationCorresponds to variant dbSNP:rs200913791EnsemblClinVar.1
Natural variantiVAR_080482323 – 440Missing in CILD22; loss of interaction with LRRC6. 1 PublicationAdd BLAST118
Natural variantiVAR_080483366 – 440Missing in CILD22; loss of interaction with DNAL1. 2 PublicationsAdd BLAST75
Natural variantiVAR_070189379Y → C in CILD22; no loss of interaction with LRRC6. 1 PublicationCorresponds to variant dbSNP:rs753061612Ensembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi51364
MalaCardsiZMYND10
MIMi615444 phenotype
OpenTargetsiENSG00000004838
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA134981649

Polymorphism and mutation databases

BioMutaiZMYND10

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002183141 – 440Zinc finger MYND domain-containing protein 10Add BLAST440

Proteomic databases

PaxDbiO75800
PeptideAtlasiO75800
PRIDEiO75800
ProteomicsDBi50200
50201 [O75800-2]

PTM databases

iPTMnetiO75800
PhosphoSitePlusiO75800

Expressioni

Gene expression databases

BgeeiENSG00000004838 Expressed in 102 organ(s), highest expression level in left testis
CleanExiHS_ZMYND10
ExpressionAtlasiO75800 baseline and differential
GenevisibleiO75800 HS

Organism-specific databases

HPAiHPA035255

Interactioni

Subunit structurei

Interacts (via C-terminus) with LRRC6 (via CS domain); this interaction stabilizes LRRC6 at the protein level (PubMed:23891469, PubMed:23891471, PubMed:29601588). Interacts (via C-terminus) with DNAL1; this interaction stabilizes DNAL1 at the protein level (PubMed:29601588). Interacts with DNAAF4, HSPA8, IQUB, RUVBL2 and TCTEX1D1 (PubMed:29601588).3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi119499, 10 interactors
IntActiO75800, 18 interactors
MINTiO75800
STRINGi9606.ENSP00000231749

Structurei

Secondary structure

1440
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75800
SMRiO75800
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75800

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni366 – 440Interaction with LRRC6Add BLAST75

Sequence similaritiesi

Belongs to the ZMYND10 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri394 – 430MYND-typePROSITE-ProRule annotationAdd BLAST37

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiENOG410IIFT Eukaryota
ENOG410Z083 LUCA
GeneTreeiENSGT00390000010195
HOGENOMiHOG000007333
HOVERGENiHBG055814
InParanoidiO75800
OMAiIYKIGLR
OrthoDBiEOG091G0759
PhylomeDBiO75800
TreeFamiTF324215

Family and domain databases

InterProiView protein in InterPro
IPR017333 UCP037948_Znf-MYND
IPR002893 Znf_MYND
PfamiView protein in Pfam
PF01753 zf-MYND, 1 hit
PIRSFiPIRSF037948 UCP037948_Znf_MYND10, 1 hit
PROSITEiView protein in PROSITE
PS01360 ZF_MYND_1, 1 hit
PS50865 ZF_MYND_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75800-1) [UniParc]FASTAAdd to basket
Also known as: Lung

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
MGDLELLLPG EAEVLVRGLR SFPLREMGSE GWNQQHENLE KLNMQAILDA
60 70 80 90 100
TVSQGEPIQE LLVTHGKVPT LVEELIAVEM WKQKVFPVFC RVEDFKPQNT
110 120 130 140 150
FPIYMVVHHE ASIINLLETV FFHKEVCESA EDTVLDLVDY CHRKLTLLVA
160 170 180 190 200
QSGCGGPPEG EGSQDSNPMQ ELQKQAELME FEIALKALSV LRYITDCVDS
210 220 230 240 250
LSLSTLSRML STHNLPCLLV ELLEHSPWSR REGGKLQQFE GSRWHTVAPS
260 270 280 290 300
EQQKLSKLDG QVWIALYNLL LSPEAQARYC LTSFAKGRLL KLRAFLTDTL
310 320 330 340 350
LDQLPNLAHL QSFLAHLTLT ETQPPKKDLV LEQIPEIWER LERENRGKWQ
360 370 380 390 400
AIAKHQLQHV FSPSEQDLRL QARRWAETYR LDVLEAVAPE RPRCAYCSAE
410 420 430 440
ASKRCSRCQN EWYCCRECQV KHWEKHGKTC VLAAQGDRAK
Length:440
Mass (Da):50,344
Last modified:November 8, 2002 - v2
Checksum:i510D41074C956CA3
GO
Isoform 2 (identifier: O75800-2) [UniParc]FASTAAdd to basket
Also known as: Testis

The sequence of this isoform differs from the canonical sequence as follows:
     200-234: SLSLSTLSRMLSTHNLPCLLVELLEHSPWSRREGG → RQWSVSQPPQLAHLKRIQRLHPVCWFLSPG

Show »
Length:435
Mass (Da):49,989
Checksum:i8E4A85DD7782C5D3
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JUQ8C9JUQ8_HUMAN
Zinc finger MYND domain-containing ...
ZMYND10
282Annotation score:
F2Z3M9F2Z3M9_HUMAN
Zinc finger MYND domain-containing ...
ZMYND10
37Annotation score:

Sequence cautioni

The sequence AAB67311 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti35Q → R in CAD38688 (PubMed:17974005).Curated1
Sequence conflicti82K → E in BAG53316 (PubMed:14702039).Curated1
Sequence conflicti134V → A in BAD97063 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07018416V → G in CILD22; no loss of interaction with LRRC6. 2 PublicationsCorresponds to variant dbSNP:rs138815960EnsemblClinVar.1
Natural variantiVAR_07018529S → P in CILD22; no loss of interaction with LRRC6. 1 PublicationCorresponds to variant dbSNP:rs587621539EnsemblClinVar.1
Natural variantiVAR_07018639L → P in CILD22. 1 Publication1
Natural variantiVAR_070187266L → P in CILD22. 1 PublicationCorresponds to variant dbSNP:rs200913791EnsemblClinVar.1
Natural variantiVAR_080482323 – 440Missing in CILD22; loss of interaction with LRRC6. 1 PublicationAdd BLAST118
Natural variantiVAR_080483366 – 440Missing in CILD22; loss of interaction with DNAL1. 2 PublicationsAdd BLAST75
Natural variantiVAR_070188369R → W1 PublicationCorresponds to variant dbSNP:rs142613783EnsemblClinVar.1
Natural variantiVAR_070189379Y → C in CILD22; no loss of interaction with LRRC6. 1 PublicationCorresponds to variant dbSNP:rs753061612Ensembl.1
Natural variantiVAR_014227407R → Q in non-small cell lung cancer cell lines. 1 PublicationCorresponds to variant dbSNP:rs182064110Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_003328200 – 234SLSLS…RREGG → RQWSVSQPPQLAHLKRIQRL HPVCWFLSPG in isoform 2. 1 PublicationAdd BLAST35

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70824 mRNA Translation: AAC24726.1
U70880 mRNA Translation: AAC24728.1
AL833828 mRNA Translation: CAD38688.1
AK096525 mRNA Translation: BAG53316.1
AK223343 mRNA Translation: BAD97063.1
AC002481 Genomic DNA Translation: AAB67311.1 Sequence problems.
CH471055 Genomic DNA Translation: EAW65104.1
BC033732 mRNA Translation: AAH33732.1
CCDSiCCDS2825.1 [O75800-1]
CCDS77747.1 [O75800-2]
RefSeqiNP_001295308.1, NM_001308379.1 [O75800-2]
NP_056980.2, NM_015896.3 [O75800-1]
UniGeneiHs.526735
Hs.627171

Genome annotation databases

EnsembliENST00000231749; ENSP00000231749; ENSG00000004838 [O75800-1]
ENST00000360165; ENSP00000353289; ENSG00000004838 [O75800-2]
GeneIDi51364
KEGGihsa:51364
UCSCiuc003dag.2 human [O75800-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U70824 mRNA Translation: AAC24726.1
U70880 mRNA Translation: AAC24728.1
AL833828 mRNA Translation: CAD38688.1
AK096525 mRNA Translation: BAG53316.1
AK223343 mRNA Translation: BAD97063.1
AC002481 Genomic DNA Translation: AAB67311.1 Sequence problems.
CH471055 Genomic DNA Translation: EAW65104.1
BC033732 mRNA Translation: AAH33732.1
CCDSiCCDS2825.1 [O75800-1]
CCDS77747.1 [O75800-2]
RefSeqiNP_001295308.1, NM_001308379.1 [O75800-2]
NP_056980.2, NM_015896.3 [O75800-1]
UniGeneiHs.526735
Hs.627171

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2D8QNMR-A384-440[»]
2DANNMR-A384-430[»]
ProteinModelPortaliO75800
SMRiO75800
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119499, 10 interactors
IntActiO75800, 18 interactors
MINTiO75800
STRINGi9606.ENSP00000231749

PTM databases

iPTMnetiO75800
PhosphoSitePlusiO75800

Polymorphism and mutation databases

BioMutaiZMYND10

Proteomic databases

PaxDbiO75800
PeptideAtlasiO75800
PRIDEiO75800
ProteomicsDBi50200
50201 [O75800-2]

Protocols and materials databases

DNASUi51364
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000231749; ENSP00000231749; ENSG00000004838 [O75800-1]
ENST00000360165; ENSP00000353289; ENSG00000004838 [O75800-2]
GeneIDi51364
KEGGihsa:51364
UCSCiuc003dag.2 human [O75800-1]

Organism-specific databases

CTDi51364
DisGeNETi51364
EuPathDBiHostDB:ENSG00000004838.13
GeneCardsiZMYND10
HGNCiHGNC:19412 ZMYND10
HPAiHPA035255
MalaCardsiZMYND10
MIMi607070 gene
615444 phenotype
neXtProtiNX_O75800
OpenTargetsiENSG00000004838
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA134981649
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIFT Eukaryota
ENOG410Z083 LUCA
GeneTreeiENSGT00390000010195
HOGENOMiHOG000007333
HOVERGENiHBG055814
InParanoidiO75800
OMAiIYKIGLR
OrthoDBiEOG091G0759
PhylomeDBiO75800
TreeFamiTF324215

Miscellaneous databases

EvolutionaryTraceiO75800
GeneWikiiZMYND10
GenomeRNAii51364
PROiPR:O75800
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000004838 Expressed in 102 organ(s), highest expression level in left testis
CleanExiHS_ZMYND10
ExpressionAtlasiO75800 baseline and differential
GenevisibleiO75800 HS

Family and domain databases

InterProiView protein in InterPro
IPR017333 UCP037948_Znf-MYND
IPR002893 Znf_MYND
PfamiView protein in Pfam
PF01753 zf-MYND, 1 hit
PIRSFiPIRSF037948 UCP037948_Znf_MYND10, 1 hit
PROSITEiView protein in PROSITE
PS01360 ZF_MYND_1, 1 hit
PS50865 ZF_MYND_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiZMY10_HUMAN
AccessioniPrimary (citable) accession number: O75800
Secondary accession number(s): A6NK41
, B3KU54, O14570, O75801, Q53FE6, Q8N4R6, Q8NDN6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 8, 2002
Last sequence update: November 8, 2002
Last modified: September 12, 2018
This is version 146 of the entry and version 2 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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Main funding by: National Institutes of Health

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