ZNF644

Protein identityUniProt · HPA

UniProt accession

Q9H582

Gene

ZNF644

Ensembl

ENSG00000122482

Chromosome

1

Canonical length

1327 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Vesicles

OverviewNCBI Gene

The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1327 residues, UniProt reviewed canonical sequence.

>Q9H582|ZNF644
     1  MRSFLQQDVN KTKSRLNVLN GLANNMDDLK INTDITGAKE ELLDDNNFIS DKESGVHKPK
    61  DCQTSFQKNN TLTLPEELSK DKSENALSGG QSSLFIHAGA PTVSSENFIL PKGAAVNGPV
   121  SHSSLTKTSN MNKGSVSLTT GQPVDQPTTE SCSTLKVAAD LQLSTPQKAS QHQVLFLLSD
   181  VAHAKNPTHS NKKLPTSASV GCDIQNSVGS NIKSDGTLIN QVEVGEDGED LLVKDDCVNT
   241  VTGISSGTDG FRSENDTNWD PQKEFIQFLM TNEETVDKAP PHSKIGLEKK RKRKMDVSKI
   301  TRYTEDCFSD SNCVPNKSKM QEVDFLEQNE ELQAVDSQKY ALSKVKPEST DEDLESVDAF
   361  QHLIYNPDKC GEESSPVHTS TFLSNTLKKK CEESDSESPA TFSTEEPSFY PCTKCNVNFR
   421  EKKHLHRHMM YHLDGNSHFR HLNVPRPYAC RECGRTFRDR NSLLKHMIIH QERRQKLMEE
   481  IRELKELQDE GRSARLQCPQ CVFGTNCPKT FVQHAKTHEK DKRYYCCEEC NFMAVTENEL
   541  ECHRGIAHGA VVKCPMVTSD IAQRKTQKKT FMKDSVVGSS KKSATYICKM CPFTTSAKSV
   601  LKKHTEYLHS SSCVDSFGSP LGLDKRKNDI LEEPVDSDST KTLTKQQSTT FPKNSALKQD
   661  VKRTFGSTSQ SSSFSKIHKR PHRIQKARKS IAQSGVNMCN QNSSPHKNVT IKSSVDQKPK
   721  YFHQAAKEKS NAKANSHYLY RHKYENYRMI KKSGESYPVH FKKEEASSLN SLHLFSSSSN
   781  SHNNFISDPH KPDAKRPESF KDHRRVAVKR VIKESKKESS VGGEDLDSYP DFLHKMTVVV
   841  LQKLNSAEKK DSYETEDESS WDNVELGDYT TQAIEDETYS DINQEHVNLF PLFKSKVEGQ
   901  EPGENATLSY DQNDGFYFEY YEDTGSNNFL HEIHDPQHLE TADASLSKHS SVFHWTDLSL
   961  EKKSCPYCPA TFETGVGLSN HVRGHLHRAG LSYEARHVVS PEQIATSDKM QHFKRTGTGT
  1021  PVKRVRKAIE KSETTSEHTC QLCGGWFDTK IGLSNHVRGH LKRLGKTKWD AHKSPICVLN
  1081  EMMQNEEKYE KILKALNSRR IIPRPFVAQK LASSDDFISQ NVIPLEAYRN GLKTEALSVS
  1141  ASEEEGLNFL NEYDETKPEL PSGKKNQSLT LIELLKNKRM GEERNSAISP QKIHNQTARK
  1201  RFVQKCVLPL NEDSPLMYQP QKMDLTMHSA LDCKQKKSRS RSGSKKKMLT LPHGADEVYI
  1261  LRCRFCGLVF RGPLSVQEDW IKHLQRHIVN ANLPRTGAGM VEVTSLLKKP ASITETSFSL
  1321  LMAEAAS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNF644 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)

0.62

Highest tissue expression

19 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZNF644.

Disease | AllUniProt

Conditions ZNF644 is implicated in, by any mechanism.

• Myopia 21, autosomal dominant (MYP21) MIM:614167

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 220 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Myopia 21, autosomal dominant

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

1.55

DepMap mean gene effect

-0.13

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• regulation of transcription by RNA polymerase II

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• transcription corepressor binding
• zinc ion binding

Cellular components

• nucleus

Protein domainsUniProt · Pfam · InterPro

• Zinc finger C2H2-type
• Zinc finger C2H2 superfamily
• Transcriptional Regulators with Zinc Finger Domains
• Wiz, C-terminal zinc finger
• Zinc finger, C2H2 type
• Zinc finger found in WIZ protein

KeywordsUniProt

• DNA-binding
• Isopeptide bond
• Metal-binding
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation
• Ubl conjugation
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of ZNF644 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CBX1
• TRIM28
• YY1