Seroatlas · Human Serome Atlas

DDHD1

Phospholipase DDHD1

Also known as: DDHD1_HUMAN, iPLA1alpha, KIAA1705, PA-PLA1, PAPLA1, SPG28

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

Protein identityUniProt · HPA

UniProt accession: Q8NEL9
Gene: DDHD1
Ensembl: ENSG00000100523
Chromosome: 14
Canonical length: 900 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Quaternary structure: Homooligomer

OverviewNCBI Gene

This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Canonical amino-acid sequenceUniProt

900 residues, UniProt reviewed canonical sequence.

>Q8NEL9|DDHD1
     1  MNYPGRGSPR SPEHNGRGGG GGAWELGSDA RPAFGGGVCC FEHLPGGDPD DGDVPLALLR
    61  GEPGLHLAPG TDDHNHHLAL DPCLSDENYD FSSAESGSSL RYYSEGESGG GGSSLSLHPP
   121  QQPPLVPTNS GGGGATGGSP GERKRTRLGG PAARHRYEVV TELGPEEVRW FYKEDKKTWK
   181  PFIGYDSLRI ELAFRTLLQT TGARPQGGDR DGDHVCSPTG PASSSGEDDD EDRACGFCQS
   241  TTGHEPEMVE LVNIEPVCVR GGLYEVDVTQ GECYPVYWNQ ADKIPVMRGQ WFIDGTWQPL
   301  EEEESNLIEQ EHLNCFRGQQ MQENFDIEVS KSIDGKDAVH SFKLSRNHVD WHSVDEVYLY
   361  SDATTSKIAR TVTQKLGFSK ASSSGTRLHR GYVEEATLED KPSQTTHIVF VVHGIGQKMD
   421  QGRIIKNTAM MREAARKIEE RHFSNHATHV EFLPVEWRSK LTLDGDTVDS ITPDKVRGLR
   481  DMLNSSAMDI MYYTSPLYRD ELVKGLQQEL NRLYSLFCSR NPDFEEKGGK VSIVSHSLGC
   541  VITYDIMTGW NPVRLYEQLL QKEEELPDER WMSYEERHLL DELYITKRRL KEIEERLHGL
   601  KASSMTQTPA LKFKVENFFC MGSPLAVFLA LRGIRPGNTG SQDHILPREI CNRLLNIFHP
   661  TDPVAYRLEP LILKHYSNIS PVQIHWYNTS NPLPYEHMKP SFLNPAKEPT SVSENEGIST
   721  IPSPVTSPVL SRRHYGESIT NIGKASILGA ASIGKGLGGM LFSRFGRSST TQSSETSKDS
   781  MEDEKKPVAS PSATTVGTQT LPHSSSGFLD SAYFRLQESF FNLPQLLFPE NVMQNKDNAL
   841  VELDHRIDFE LREGLVESRY WSAVTSHTAY WSSLDVALFL LTFMYKHEHD DDAKPNLDPI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DDHD1 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): 0.46
Highest tissue expression: 29 nTPM

Expression across tissuesHPA

Tissue

testis: 29 nTPM
retina: 15 nTPM
spinal cord: 9.4 nTPM
lymph node: 9.3 nTPM
cerebellum: 8.3 nTPM
bone marrow: 8.2 nTPM

Single-cell type

early spermatids: 358 nCPM
gonadotrophs: 238 nCPM
pituitary stem cells: 204 nCPM
late spermatids: 194 nCPM
late primary spermatocytes: 192 nCPM
cone photoreceptor cells: 182 nCPM

Immune cell

T-reg: 5.3 nTPM
memory CD8 T-cell: 5.1 nTPM
gdT-cell: 4.6 nTPM
NK-cell: 4.6 nTPM
MAIT T-cell: 4.4 nTPM
naive CD8 T-cell: 3.9 nTPM

Brain region

white matter: 38 nTPM
cerebral cortex: 38 nTPM
cerebellum: 37 nTPM
pons: 34 nTPM
medulla oblongata: 32 nTPM
hypothalamus: 32 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DDHD1.

Disease | AllUniProt

Conditions DDHD1 is implicated in, by any mechanism.

Spastic paraplegia 28, autosomal recessive (SPG28) MIM:609340

Disease | GeneticClinVar

31 pathogenic / likely-pathogenic of 590 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hereditary spastic paraplegia 28
Cervical cancer
Hereditary spastic paraplegia

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): 0.34
gnomAD pLI: 0.9
gnomAD missense Z: 1.18
DepMap mean gene effect: -0.05
DepMap dependency class: none

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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DDHD1 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 DDHD1 as an antibody target. Whether an autoantibody or antibody against DDHD1 could matter depends on whether native DDHD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DDHD1 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 DDHD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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