Seroatlas · Human Serome Atlas

HFM1

Probable ATP-dependent DNA helicase HFM1

Also known as: FLJ36760, FLJ39011, HFM1_HUMAN, MER3, SEC63D1

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

Protein identityUniProt · HPA

UniProt accession: A2PYH4
Gene: HFM1
Ensembl: ENSG00000162669
Chromosome: 1
Canonical length: 1435 aa
Protein class: Enzymes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Vesicles

OverviewNCBI Gene

The protein encoded by this gene is thought to be an ATP-dependent DNA helicase and is expressed mainly in germ-line cells. Defects in this gene are a cause of premature ovarian failure 9 (POF9). [provided by RefSeq, Apr 2014]

Canonical amino-acid sequenceUniProt

1435 residues, UniProt reviewed canonical sequence.

>A2PYH4|HFM1
     1  MLKSNDCLFS LENLFFEKPD EVENHPDNEK SLDWFLPPAP LISEIPDTQE LEEELESHKL
    61  LGQEKRPKML TSNLKITNED TNYISLTQKF QFAFPSDKYE QDDLNLEGVG NNDLSHIAGK
   121  LTYASQKYKN HIGTEIAPEK SVPDDTKLVN FAEDKGESTS VFRKRLFKIS DNIHGSAYSN
   181  DNELDSHIGS VKIVQTEMNK GKSRNYSNSK QKFQYSANVF TANNAFSASE IGEGMFKAPS
   241  FSVAFQPHDI QEVTENGLGS LKAVTEIPAK FRSIFKEFPY FNYIQSKAFD DLLYTDRNFV
   301  ICAPTGSGKT VVFELAITRL LMEVPLPWLN IKIVYMAPIK ALCSQRFDDW KEKFGPIGLN
   361  CKELTGDTVM DDLFEIQHAH IIMTTPEKWD SMTRKWRDNS LVQLVRLFLI DEVHIVKDEN
   421  RGPTLEVVVS RMKTVQSVSQ TLKNTSTAIP MRFVAVSATI PNAEDIAEWL SDGERPAVCL
   481  KMDESHRPVK LQKVVLGFPC SSNQTEFKFD LTLNYKIASV IQMYSDQKPT LVFCATRKGV
   541  QQAASVLVKD AKFIMTVEQK QRLQKYAYSV RDSKLRDILK DGAAYHHAGM ELSDRKVVEG
   601  AFTVGDLPVL FTTSTLAMGV NLPAHLVVIK STMHYAGGLF EEYSETDILQ MIGRAGRPQF
   661  DTTATAVIMT RLSTRDKYIQ MLACRDTVES SLHRHLIEHL NAEIVLHTIT DVNIAVEWIR
   721  STLLYIRALK NPSHYGFASG LNKDGIEAKL QELCLKNLND LSSLDLIKMD EGVNFKPTEA
   781  GRLMAWYYIT FETVKKFYTI SGKETLSDLV TLIAGCKEFL DIQLRINEKK TLNTLNKDPN
   841  RITIRFPMEG RIKTREMKVN CLIQAQLGCI PIQDFALTQD TAKIFRHGSR ITRWLSDFVA
   901  AQEKKFAVLL NSLILAKCFR CKLWENSLHV SKQLEKIGIT LSNAIVNAGL TSFKKIEETD
   961  ARELELILNR HPPFGTQIKE TVMYLPKYEL KVEQITRYSD TTAEILVTVI LRNFEQLQTK
  1021  RTASDSHYVT LIIGDADNQV VYLHKITDSV LLKAGSWAKK IAVKRALKSE DLSINLISSE
  1081  FVGLDIQQKL TVFYLEPKRF GNQITMQRKS ETQISHSKHS DISTIAGPNK GTTASKKPGN
  1141  RECNHLCKSK HTCGHDCCKI GVAQKSEIKE STISSYLSDL RNRNAVSSVP PVKRLKIQMN
  1201  KSQSVDLKEF GFTPKPSLPS ISRSEYLNIS ELPIMEQWDQ PEIYGKVRQE PSEYQDKEVL
  1261  NVNFELGNEV WDDFDDENLE VTSFSTDTEK TKISGFGNTL SSSTRGSKLP LQESKSKFQR
  1321  EMSNSFVSSH EMSDISLSNS AMPKFSASSM TKLPQQAGNA VIVHFQERKP QNLSPEIEKQ
  1381  CFTFSEKNPN SSNYKKVDFF IRNSECKKEV DFSMYHPDDE ADEMKSLLGI FDGIF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HFM1 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): 0.42
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

testis: 13 nTPM
pituitary gland: 8.7 nTPM
retina: 4.2 nTPM
ovary: 3 nTPM
endometrium: 2.2 nTPM
cerebellum: 1.9 nTPM

Single-cell type

corticotrophs: 488 nCPM
early primary spermatocytes: 173 nCPM
myonuclei: 123 nCPM
oligodendrocyte progenitor cells: 120 nCPM
podocytes: 105 nCPM
sertoli cells: 100 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

cerebellum: 12 nTPM
medulla oblongata: 5.5 nTPM
hypothalamus: 4.9 nTPM
midbrain: 4.9 nTPM
white matter: 4.3 nTPM
spinal cord: 3.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HFM1.

Disease | AllUniProt

Conditions HFM1 is implicated in, by any mechanism.

Premature ovarian failure 9 (POF9) MIM:615724

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 248 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Premature ovarian failure 9
Genetic non-acquired premature ovarian failure
Spermatogenic failure 4
Azoospermia
HFM1-related disorder

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): 0.93
gnomAD pLI: 0
gnomAD missense Z: 0.74
DepMap mean gene effect: -0.04
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

resolution of meiotic recombination intermediates

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HFM1 as an antibody target. Whether an autoantibody or antibody against HFM1 could matter depends on whether native HFM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HFM1 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 HFM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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