Seroatlas · Human Serome Atlas

HELZ

Probable helicase with zinc finger domain

Also known as: DHRC, HELZ_HUMAN, HUMORF5, KIAA0054

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

Protein identityUniProt · HPA

UniProt accession: P42694
Gene: HELZ
Ensembl: ENSG00000198265
Chromosome: 17
Canonical length: 1942 aa
Protein class: Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoli,Nucleoli rim,Plasma membrane,Actin filaments

OverviewNCBI Gene

HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]

Canonical amino-acid sequenceUniProt

1942 residues, UniProt reviewed canonical sequence.

>P42694|HELZ
     1  MEDRRAEKSC EQACESLKRQ DYEMALKHCT EALLSLGQYS MADFTGPCPL EIERIKIESL
    61  LYRIASFLQL KNYVQADEDC RHVLGEGLAK GEDAFRAVLC CMQLKGKLQP VSTILAKSLT
   121  GESLNGMVTK DLTRLKTLLS ETETATSNAL SGYHVEDLDE GSCNGWHFRP PPRGITSSEE
   181  YTLCKRFLEQ GICRYGAQCT SAHSQEELAE WQKRYASRLI KLKQQNENKQ LSGSYMETLI
   241  EKWMNSLSPE KVLSECIEGV KVEHNPDLSV TVSTKKSHQT WTFALTCKPA RMLYRVALLY
   301  DAHRPHFSII AISAGDSTTQ VSQEVPENCQ EWIGGKMAQN GLDHYVYKVG IAFNTEIFGT
   361  FRQTIVFDFG LEPVLMQRVM IDAASTEDLE YLMHAKQQLV TTAKRWDSSS KTIIDFEPNE
   421  TTDLEKSLLI RYQIPLSADQ LFTQSVLDKS LTKSNYQSRL HDLLYIEEIA QYKEISKFNL
   481  KVQLQILASF MLTGVSGGAK YAQNGQLFGR FKLTETLSED TLAGRLVMTK VNAVYLLPVP
   541  KQKLVQTQGT KEKVYEATIE EKTKEYIFLR LSRECCEELN LRPDCDTQVE LQFQLNRLPL
   601  CEMHYALDRI KDNGVLFPDI SMTPTIPWSP NRQWDEQLDP RLNAKQKEAV LAITTPLAIQ
   661  LPPVLIIGPY GTGKTFTLAQ AVKHILQQQE TRILICTHSN SAADLYIKDY LHPYVEAGNP
   721  QARPLRVYFR NRWVKTVHPV VHQYCLISSA HSTFQMPQKE DILKHRVVVV TLNTSQYLCQ
   781  LDLEPGFFTH ILLDEAAQAM ECETIMPLAL ATQNTRIVLA GDHMQLSPFV YSEFARERNL
   841  HVSLLDRLYE HYPAEFPCRI LLCENYRSHE AIINYTSELF YEGKLMASGK QPAHKDFYPL
   901  TFFTARGEDV QEKNSTAFYN NAEVFEVVER VEELRRKWPV AWGKLDDGSI GVVTPYADQV
   961  FRIRAELRKK RLSDVNVERV LNVQGKQFRV LFLSTVRTRH TCKHKQTPIK KKEQLLEDST
  1021  EDLDYGFLSN YKLLNTAITR AQSLVAVVGD PIALCSIGRC RKFWERFIAL CHENSSLHGI
  1081  TFEQIKAQLE ALELKKTYVL NPLAPEFIPR ALRLQHSGST NKQQQSPPKG KSLHHTQNDH
  1141  FQNDGIVQPN PSVLIGNPIR AYTPPPPLGP HPNLGKSPSP VQRIDPHTGT SILYVPAVYG
  1201  GNVVMSVPLP VPWTGYQGRF AVDPRIITHQ AAMAYNMNLL QTHGRGSPIP YGLGHHPPVT
  1261  IGQPQNQHQE KDQHEQNRNG KSDTNNSGPE INKIRTPEKK PTEPKQVDLE SNPQNRSPES
  1321  RPSVVYPSTK FPRKDNLNPR HINLPLPAPH AQYAIPNRHF HPLPQLPRPP FPIPQQHTLL
  1381  NQQQNNLPEQ PNQIPPQPNQ VVQQQSQLNQ QPQQPPPQLS PAYQAGPNNA FFNSAVAHRP
  1441  QSPPAEAVIP EQQPPPMLQE GHSPLRAIAQ PGPILPSHLN SFIDENPSGL PIGEALDRIH
  1501  GSVALETLRQ QQARFQQWSE HHAFLSQGSA PYPHHHHPHL QHLPQPPLGL HQPPVRADWK
  1561  LTSSAEDEVE TTYSRFQDLI RELSHRDQSE TRELAEMPPP QSRLLQYRQV QSRSPPAVPS
  1621  PPSSTDHSSH FSNFNDNSRD IEVASNPAFP QRLPPQIFNS PFSLPSEHLA PPPLKYLAPD
  1681  GAWTFANLQQ NHLMGPGFPY GLPPLPHRPP QNPFVQIQNH QHAIGQEPFH PLSSRTVSSS
  1741  SLPSLEEYEP RGPGRPLYQR RISSSSVQPC SEEVSTPQDS LAQCKELQDH SNQSSFNFSS
  1801  PESWVNTTSS TPYQNIPCNG SSRTAQPREL IAPPKTVKPP EDQLKSENLE VSSSFNYSVL
  1861  QHLGQFPPLM PNKQIAESAN SSSPQSSAGG KPAMSYASAL RAPPKPRPPP EQAKKSSDPL
  1921  SLFQELSLGS SSGSNGFYSY FK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HELZ 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): 0.45
Highest tissue expression: 14 nTPM

Expression across tissuesHPA

Tissue

thymus: 14 nTPM
retina: 13 nTPM
tongue: 13 nTPM
bone marrow: 12 nTPM
parathyroid gland: 11 nTPM
placenta: 11 nTPM

Single-cell type

sertoli cells: 613 nCPM
endometrial glandular cells: 446 nCPM
nk-cells: 385 nCPM
myonuclei: 358 nCPM
neutrophil progenitors: 321 nCPM
innate lymphoid cells: 294 nCPM

Immune cell

MAIT T-cell: 6.3 nTPM
gdT-cell: 5.1 nTPM
classical monocyte: 3.3 nTPM
memory CD8 T-cell: 3.2 nTPM
memory CD4 T-cell: 3.1 nTPM
T-reg: 3.1 nTPM

Brain region

cerebellum: 49 nTPM
choroid plexus: 43 nTPM
hypothalamus: 39 nTPM
cerebral cortex: 38 nTPM
thalamus: 36 nTPM
midbrain: 36 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HELZ.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 246 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Abnormal brain morphology

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): 0.05
gnomAD pLI: 1
gnomAD missense Z: 3.3
DepMap mean gene effect: -0.19
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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

KeywordsUniProt

InteractionsUniProt · HPA

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

HELZ 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 HELZ as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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