LOXHD1

Protein identityUniProt · HPA

UniProt accession

Q8IVV2

Gene

LOXHD1

Ensembl

ENSG00000167210

Chromosome

18

Canonical length

2067 aa

Protein class

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

Subcellular location

Plasma membrane

OverviewNCBI Gene

This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

2067 residues, UniProt reviewed canonical sequence.

>Q8IVV2|LOXHD1
     1  MMPQKKRRRK KDIDFLALYE AELLNYASED DEGELEHEYY KARVYEVVTA TGDVRGAGTD
    61  ANVFITLFGE NGLSPKLQLT SKSKSAFEKG NVDVFRVRTN NVGLIYKVRI EHDNTGLNAS
   121  WYLDHVIVTD MKRPHLRYYF NCNNWLSKVE GDRQWCRDLL ASFNPMDMPR GNKYEVKVYT
   181  GDVIGAGTDA DVFINIFGEY GDTGERRLEN EKDNFEKGAE DRFILDAPDL GQLMKINVGH
   241  NNKGGSAGWF LSQIVIEDIG NKRKYDFPLN RWLALDEDDG KIQRDILVGG AETTAITYIV
   301  TVFTGDVRGA GTKSKIYLVM YGARGNKNSG KIFLEGGVFD RGRTDIFHIE LAVLLSPLSR
   361  VSVGHGNVGV NRGWFCEKVV ILCPFTGIQQ TFPCSNWLDE KKADGLIERQ LYEMVSLRKK
   421  RLKKFPWSLW VWTTDLKKAG TNSPIFIQIY GQKGRTDEIL LNPNNKWFKP GIIEKFRIEL
   481  PDLGRFYKIR VWHDKRSSGS GWHLERMTLM NTLNKDKYNF NCNRWLDANE DDNEIVREMT
   541  AEGPTVRRIM GMARYHVTVC TGELEGAGTD ANVYLCLFGD VGDTGERLLY NCRNNTDLFE
   601  KGNADEFTIE SVTMRNVRRV RIRHDGKGSG SGWYLDRVLV REEGQPESDN VEFPCLRWLD
   661  KDKDDGQLVR ELLPSDSSAT LKNFRYHISL KTGDVSGAST DSRVYIKLYG DKSDTIKQVL
   721  LVSDNNLKDY FERGRVDEFT LETLNIGNIN RLVIGHDSTG MHASWFLGSV QIRVPRQGKQ
   781  YTFPANRWLD KNQADGRLEV ELYPSEVVEI QKLVHYEVEI WTGDVGGAGT SARVYMQIYG
   841  EKGKTEVLFL SSRSKVFERA SKDTFQTDTF TIYAIDLGAL TKIRIRHDNT GNRAGWFLDR
   901  IDITDMNNEI TYYFPCQRWL AVEEDDGQLS RELLPVDESY VLPQSEEGRG GGDNNPLDNL
   961  ALEQKDKSTT FSVTIKTGVK KNAGTDANVF ITLFGTQDDT GMTLLKSSKT NSDKFERDSI
  1021  EIFTVETLDL GDLWKVRLGH DNTGKAPGWF VDWVEVDAPS LGKCMTFPCG RWLAKNEDDG
  1081  SIIRDLFHAE LQTRLYTPFV PYEITLYTSD VFAAGTDANI FIIIYGCDAV CTQQKYLCTN
  1141  KREQKQFFER KSASRFIVEL EDVGEIIEKI RIGHNNTGMN PGWHCSHVDI RRLLPDKDGA
  1201  ETLTFPCDRW LATSEDDKKT IRELVPYDIF TEKYMKDGSL RQVYKEVEEP LDIVLYSVQI
  1261  FTGNIPGAGT DAKVYITIYG DLGDTGERYL GKSENRTNKF ERGTADTFII EAADLGVIYK
  1321  IKLRHDNSKW CADWYVEKVE IWNDTNEDEF LFLCGRWLSL KKEDGRLERL FYEKEYTGDR
  1381  SSNCSSPADF WEIALSSKMA DVDISTVTGP MADYVQEGPI IPYYVSVTTG KHKDAATDSR
  1441  AFIFLIGEDD ERSKRIWLDY PRGKRGFSRG SVEEFYVAGL DVGIIKKIEL GHDGASPESC
  1501  WLVEELCLAV PTQGTKYMLN CNCWLAKDRG DGITSRVFDL LDAMVVNIGV KVLYEMTVWT
  1561  GDVVGGGTDS NIFMTLYGIN GSTEEMQLDK KKARFEREQN DTFIMEILDI APFTKMRIRI
  1621  DGLGSRPEWF LERILLKNMN TGDLTMFYYG DWLSQRKGKK TLVCEMCAVI DEEEMMEWTS
  1681  YTVAVKTSDI LGAGTDANVF IIIFGENGDS GTLALKQSAN WNKFERNNTD TFNFPDMLSL
  1741  GHLCKLRVWH DNKGIFPGWH LSYVDVKDNS RDETFHFQCD CWLSKSEGDG QTVRDFACAN
  1801  NKICDELEET TYEIVIETGN GGETRENVWL ILEGRKNRSK EFLMENSSRQ RAFRKGTTDT
  1861  FEFDSIYLGD IASLCVGHLA REDRFIPKRE LAWHVKTITI TEMEYGNVYF FNCDCLIPLK
  1921  RKRKYFKVFE VTKTTESFAS KVQSLVPVKY EVIVTTGYEP GAGTDANVFV TIFGANGDTG
  1981  KRELKQKMRN LFERGSTDRF FLETLELGEL RKVRLEHDSS GYCSGWLVEK VEVTNTSTGV
  2041  ATIFNCGRWL DKKRGDGLTW RDLFPSV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LOXHD1 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)

0.25

Highest tissue expression

22 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LOXHD1.

Disease | AllUniProt

Conditions LOXHD1 is implicated in, by any mechanism.

• Deafness, autosomal recessive, 77 (DFNB77) MIM:613079

Disease | GeneticClinVar

444 pathogenic / likely-pathogenic of 3,035 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive nonsyndromic hearing loss 77
• Nonsyndromic genetic hearing loss
• Rare genetic deafness
• LOXHD1-related disorder
• Hearing impairment

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)

1.01

gnomAD pLI

0

gnomAD missense Z

1.38

DepMap mean gene effect

0.2

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• sensory perception of sound

Cellular components

• stereocilium

Protein domainsUniProt · Pfam · InterPro

• PLAT/LH2 domain
• PLAT/LH2 domain superfamily
• PLAT/LH2 domain
• Inner ear hair cell lipoxygenase homology domain-containing protein

KeywordsUniProt

• Cell projection
• Deafness
• Hearing
• Non-syndromic deafness
• Repeat