Seroatlas · Human Serome Atlas

AK7

Adenylate kinase 7

Also known as: CFAP75, FAP75, FLJ32864, KAD7_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q96M32
Gene: AK7
Ensembl: ENSG00000140057
Chromosome: 14
Canonical length: 723 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Cytosol,Principal piece

OverviewNCBI Gene

This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

723 residues, UniProt reviewed canonical sequence.

>Q96M32|AK7
     1  MAEEEETAAL TEKVIRTQRV FINLLDSYSS GNIGKFLSNC VVGASLEEIT EEEEEEDENK
    61  SAMLEASSTK VKEGTFQIVG TLSKPDSPRP DFAVETYSAI SREDLLMRLL ECDVIIYNIT
   121  ESSQQMEEAI WAVSALSEEV SHFEKRKLFI LLSTVMTWAR SKALDPEDSE VPFTEEDYRR
   181  RKSHPNFLDH INAEKMVLKF GKKARKFAAY VVAAGLQYGA EGGMLHTFFK MAWLGEIPAL
   241  PVFGDGTNVI PTIHVLDLAG VIQNVIDHVP KPHYLVAVDE SVHTLEDIVK CISKNTGPGK
   301  IQKIPRENAY LTKDLTQDCL DHLLVNLRME ALFVKENFNI RWAAQTGFVE NINTILKEYK
   361  QSRGLMPIKI CILGPPAVGK SSIAKELANY YKLHHIQLKD VISEAIAKLE AIVAPNDVGE
   421  GEEEVEEEEE EENVEDAQEL LDGIKESMEQ NAGQLDDQYI IRFMKEKLKS MPCRNQGYIL
   481  DGFPKTYDQA KDLFNQEDEE EEDDVRGRMF PFDKLIIPEF VCALDASDEF LKERVINLPE
   541  SIVAGTHYSQ DRFLRALSNY RDINIDDETV FNYFDELEIH PIHIDVGKLE DAQNRLAIKQ
   601  LIKEIGEPRN YGLTDEEKAE EERKAAEERL AREAAEEAER EHQEAVEMAE KIARWEEWNK
   661  RLEEVKREER ELLEAQSIPL RNYLMTYVMP TLIQGLNECC NVRPEDPVDF LAEYLFKNNP
   721  EAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AK7 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): 0.31
Highest tissue expression: 23 nTPM

Expression across tissuesHPA

Tissue

fallopian tube: 23 nTPM
choroid plexus: 17 nTPM
testis: 7.1 nTPM
parathyroid gland: 6.5 nTPM
skin: 5.2 nTPM
hypothalamus: 4.9 nTPM

Single-cell type

respiratory ciliated cells: 336 nCPM
fallopian tube ciliated cells: 217 nCPM
ependymal cells: 190 nCPM
endometrial ciliated cells: 167 nCPM
epididymal efferent duct ciliated cells: 129 nCPM
choroid plexus epithelial cells: 57 nCPM

Immune cell

basophil: 9.1 nTPM
neutrophil: 0.3 nTPM
memory CD8 T-cell: 0.2 nTPM
non-classical monocyte: 0.2 nTPM
total PBMC: 0.2 nTPM
classical monocyte: 0.1 nTPM

Brain region

choroid plexus: 31 nTPM
midbrain: 23 nTPM
medulla oblongata: 18 nTPM
hypothalamus: 14 nTPM
spinal cord: 13 nTPM
white matter: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about AK7.

Disease | AllUniProt

Conditions AK7 is implicated in, by any mechanism.

Spermatogenic failure 27 (SPGF27) MIM:617965

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 461 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spermatogenic failure 27

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): 0.85
gnomAD pLI: 0
gnomAD missense Z: 0.49
DepMap mean gene effect: 0
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

cell projection organization

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

Adenylate kinase/UMP-CMP kinase
Dpy-30 motif
P-loop containing nucleoside triphosphate hydrolase
NAD(P)-binding domain superfamily
Adenylate kinase
Dpy-30 motif
Adenylate kinase 7, dimerization/docking domain

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads AK7 as an antibody target. Whether an autoantibody or antibody against AK7 could matter depends on whether native AK7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

AK7 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 AK7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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