Seroatlas · Human Serome Atlas

ZMIZ1

Zinc finger MIZ domain-containing protein 1

Also known as: FLJ13541, hZIMP10, KIAA1224, MIZ, RAI17, RP11-519K18.1, Zimp10, ZMIZ1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9ULJ6
Gene: ZMIZ1
Ensembl: ENSG00000108175
Chromosome: 10
Canonical length: 1067 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

1067 residues, UniProt reviewed canonical sequence.

>Q9ULJ6|ZMIZ1
     1  MNSMDRHIQQ TNDRLQCIKQ HLQNPANFHN AATELLDWCG DPRAFQRPFE QSLMGCLTVV
    61  SRVAAQQGFD LDLGYRLLAV CAANRDKFTP KSAALLSSWC EELGRLLLLR HQKSRQSDPP
   121  GKLPMQPPLS SMSSMKPTLS HSDGSFPYDS VPWQQNTNQP PGSLSVVTTV WGVTNTSQSQ
   181  VLGNPMANAN NPMNPGGNPM ASGMTTSNPG LNSPQFAGQQ QQFSAKAGPA QPYIQQSMYG
   241  RPNYPGSGGF GASYPGGPNA PAGMGIPPHT RPPADFTQPA AAAAAAAVAA AAATATATAT
   301  ATVAALQETQ NKDINQYGPM GPTQAYNSQF MNQPGPRGPA SMGGSMNPAS MAAGMTPSGM
   361  SGPPMGMNQP RPPGISPFGT HGQRMPQQTY PGPRPQSLPI QNIKRPYPGE PNYGNQQYGP
   421  NSQFPTQPGQ YPAPNPPRPL TSPNYPGQRM PSQPSSGQYP PPTVNMGQYY KPEQFNGQNN
   481  TFSGSSYSNY SQGNVNRPPR PVPVANYPHS PVPGNPTPPM TPGSSIPPYL SPSQDVKPPF
   541  PPDIKPNMSA LPPPPANHND ELRLTFPVRD GVVLEPFRLE HNLAVSNHVF HLRPTVHQTL
   601  MWRSDLELQF KCYHHEDRQM NTNWPASVQV SVNATPLTIE RGDNKTSHKP LHLKHVCQPG
   661  RNTIQITVTA CCCSHLFVLQ LVHRPSVRSV LQGLLKKRLL PAEHCITKIK RNFSSVAASS
   721  GNTTLNGEDG VEQTAIKVSL KCPITFRRIQ LPARGHDCKH VQCFDLESYL QLNCERGTWR
   781  CPVCNKTALL EGLEVDQYMW GILNAIQHSE FEEVTIDPTC SWRPVPIKSD LHIKDDPDGI
   841  PSKRFKTMSP SQMIMPNVME MIAALGPGPS PYPLPPPPGG TNSNDYSSQG NNYQGHGNFD
   901  FPHGNPGGTS MNDFMHGPPQ LSHPPDMPNN MAALEKPLSH PMQETMPHAG SSDQPHPSIQ
   961  QGLHVPHPSS QSGPPLHHSG APPPPPSQPP RQPPQAAPSS HPHSDLTFNP SSALEGQAGA
  1021  QGASDMPEPS LDLLPELTNP DELLSYLDPP DLPSNSNDDL LSLFENN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZMIZ1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.55
Highest tissue expression: 45 nTPM

Expression across tissuesHPA

Tissue

cervix: 45 nTPM
endometrium: 45 nTPM
esophagus: 37 nTPM
spleen: 37 nTPM
thyroid gland: 36 nTPM
ovary: 35 nTPM

Single-cell type

late spermatids: 427 nCPM
esophageal apical cells: 372 nCPM
retinal horizontal cells: 264 nCPM
hematopoietic stem cells: 256 nCPM
monocytes: 236 nCPM
thymocytes: 235 nCPM

Immune cell

intermediate monocyte: 1.9 nTPM
neutrophil: 1.8 nTPM
NK-cell: 1.7 nTPM
non-classical monocyte: 1.7 nTPM
plasmacytoid DC: 1.4 nTPM
myeloid DC: 1.3 nTPM

Brain region

midbrain: 84 nTPM
medulla oblongata: 82 nTPM
thalamus: 77 nTPM
cerebral cortex: 74 nTPM
pons: 69 nTPM
hypothalamus: 68 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZMIZ1.

Disease | AllUniProt

Conditions ZMIZ1 is implicated in, by any mechanism.

Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) MIM:618659

Disease | GeneticClinVar

57 pathogenic / likely-pathogenic of 838 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
Syndromic neurodevelopmental disorder
Inborn genetic diseases
ZMIZ1-related disorder
Hemolytic anemia due to glutathione reductase deficiency

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.25
gnomAD pLI: 1
gnomAD missense Z: 3.39
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Zinc finger, MIZ-type
Zinc finger, RING/FYVE/PHD-type
ZMIZ1/ZMIZ2, GBD-like domain
MIZ/SP-RING zinc finger
ZMIZ1/ZMIZ2 GBD-like domain
ZMIZ1, N-terminal domain
Zmiz1 N-terminal tetratricopeptide repeat domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ZMIZ1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZMIZ1 as an antibody target. Whether an autoantibody or antibody against ZMIZ1 could matter depends on whether native ZMIZ1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZMIZ1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ZMIZ1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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