Seroatlas · Human Serome Atlas

INPP5F

Phosphatidylinositide phosphatase SAC2

Also known as: hSac2, KIAA0966, SAC2, SAC2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9Y2H2
Gene: INPP5F
Ensembl: ENSG00000198825
Chromosome: 10
Canonical length: 1132 aa
Protein class: Enzymes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase and contains a Sac domain. The activity of this protein is specific for phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

1132 residues, UniProt reviewed canonical sequence.

>Q9Y2H2|INPP5F
     1  MELFQAKDHY ILQQGERALW CSRRDGGLQL RPATDLLLAW NPICLGLVEG VIGKIQLHSD
    61  LPWWLILIRQ KALVGKLPGD HEVCKVTKIA VLSLSEMEPQ DLELELCKKH HFGINKPEKI
   121  IPSPDDSKFL LKTFTHIKSN VSAPNKKKVK ESKEKEKLER RLLEELLKMF MDSESFYYSL
   181  TYDLTNSVQR QSTGERDGRP LWQKVDDRFF WNKYMIQDLT EIGTPDVDFW IIPMIQGFVQ
   241  IEELVVNYTE SSDDEKSSPE TPPQESTCVD DIHPRFLVAL ISRRSRHRAG MRYKRRGVDK
   301  NGNVANYVET EQLIHVHNHT LSFVQTRGSV PVFWSQVGYR YNPRPRLDRS EKETVAYFCA
   361  HFEEQLNIYK KQVIINLVDQ AGREKIIGDA YLKQVLLFNN SHLTYVSFDF HEHCRGMKFE
   421  NVQTLTDAIY DIILDMKWCW VDEAGVICKQ EGIFRVNCMD CLDRTNVVQA AIARVVMEQQ
   481  LKKLGVMPPE QPLPVKCNRI YQIMWANNGD SISRQYAGTA ALKGDFTRTG ERKLAGVMKD
   541  GVNSANRYYL NRFKDAYRQA VIDLMQGIPV TEDLYSIFTK EKEHEALHKE NQRSHQELIS
   601  QLLQSYMKLL LPDDEKFHGG WALIDCDPSL IDATHRDVDV LLLLSNSAYY VAYYDDEVDK
   661  VNQYQRLSLE NLEKIEIGPE PTLFGKPKFS CMRLHYRYKE ASGYFHTLRA VMRNPEEDGK
   721  DTLQCIAEML QITKQAMGSD LPIIEKKLER KSSKPHEDII GIRSQNQGSL AQGKNFLMSK
   781  FSSLNQKVKQ TKSNVNIGNL RKLGNFTKPE MKVNFLKPNL KVNLWKSDSS LETMENTGVM
   841  DKVQAESDGD MSSDNDSYHS DEFLTNSKSD EDRQLANSLE SVGPIDYVLP SCGIIASAPR
   901  LGSRSQSLSS TDSSVHAPSE ITVAHGSGLG KGQESPLKKS PSAGDVHILT GFAKPMDIYC
   961  HRFVQDAQNK VTHLSETRSV SQQASQERNQ MTNQVSNETQ SESTEQTPSR PSQLDVSLSA
  1021  TGPQFLSVEP AHSVASQKTP TSASSMLELE TGLHVTPSPS ESSSSRAVSP FAKIRSSMVQ
  1081  VASITQAGLT HGINFAVSKV QKSPPEPEII NQVQQNELKK MFIQCQTRII QI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against INPP5F 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): 0.41
Highest tissue expression: 138 nTPM

Expression across tissuesHPA

Tissue

hypothalamus: 138 nTPM
cerebral cortex: 94 nTPM
cerebellum: 90 nTPM
basal ganglia: 80 nTPM
midbrain: 57 nTPM
spinal cord: 53 nTPM

Single-cell type

bergmann glia: 517 nCPM
other brain neurons: 170 nCPM
schwann cells: 160 nCPM
brain inhibitory neurons: 152 nCPM
cdc: 134 nCPM
brain excitatory neurons: 115 nCPM

Immune cell

naive B-cell: 9.1 nTPM
memory B-cell: 6.8 nTPM
myeloid DC: 6.2 nTPM
T-reg: 5.3 nTPM
non-classical monocyte: 3.6 nTPM
classical monocyte: 3.4 nTPM

Brain region

hypothalamus: 289 nTPM
pons: 156 nTPM
medulla oblongata: 146 nTPM
cerebral cortex: 126 nTPM
thalamus: 122 nTPM
white matter: 116 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about INPP5F.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 151 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Familial hypercholesterolemia

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): 0.52
gnomAD pLI: 0
gnomAD missense Z: 1.35
DepMap mean gene effect: 0.01
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 INPP5F 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 INPP5F as an antibody target. Whether an autoantibody or antibody against INPP5F could matter depends on whether native INPP5F is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

INPP5F 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 INPP5F as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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