Seroatlas · Human Serome Atlas

AASDH

Beta-alanine-activating enzyme

Also known as: ACSF4, ACSF4_HUMAN, LYS2, NRPS998

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

Protein identityUniProt · HPA

UniProt accession: Q4L235
Gene: AASDH
Ensembl: ENSG00000157426
Chromosome: 4
Canonical length: 1098 aa
Protein class: Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a member of the non-ribosome peptide syntesase (NRPS) enzyme family. The encoded protein contains an AMP-binding domain, PP-binding (phosphopantetheine, or pantetheine 4'phosphate-binding) domain and the Pyrrolo-quinoline quinon (PQQ) binding domain. The protein is expressed in several adult tissues. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

1098 residues, UniProt reviewed canonical sequence.

>Q4L235|AASDH
     1  MTLQELVHKA ASCYMDRVAV CFDECNNQLP VYYTYKTVVN AASELSNFLL LHCDFQGIRE
    61  IGLYCQPGID LPSWILGILQ VPAAYVPIEP DSPPSLSTHF MKKCNLKYIL VEKKQINKFK
   121  SFHETLLNYD TFTVEHNDLV LFRLHWKNTE VNLMLNDGKE KYEKEKIKSI SSEHVNEEKA
   181  EEHMDLRLKH CLAYVLHTSG TTGIPKIVRV PHKCIVPNIQ HFRVLFDITQ EDVLFLASPL
   241  TFDPSVVEIF LALSSGASLL IVPTSVKLLP SKLASVLFSH HRVTVLQATP TLLRRFGSQL
   301  IKSTVLSATT SLRVLALGGE AFPSLTVLRS WRGEGNKTQI FNVYGITEVS SWATIYRIPE
   361  KTLNSTLKCE LPVQLGFPLL GTVVEVRDTN GFTIQEGSGQ VFLGGRNRVC FLDDEVTVPL
   421  GTMRATGDFV TVKDGEIFFL GRKDSQIKRH GKRLNIELVQ QVAEELQQVE SCAVTWYNQE
   481  KLILFMVSKD ASVKEYIFKE LQKYLPSHAV PDELVLIDSL PFTSHGKIDV SELNKIYLNY
   541  INLKSENKLS GKEDLWEKLQ YLWKSTLNLP EDLLRVPDES LFLNSGGDSL KSIRLLSEIE
   601  KLVGTSVPGL LEIILSSSIL EIYNHILQTV VPDEDVTFRK SCATKRKLSD INQEEASGTS
   661  LHQKAIMTFT CHNEINAFVV LSRGSQILSL NSTRFLTKLG HCSSACPSDS VSQTNIQNLK
   721  GLNSPVLIGK SKDPSCVAKV SEEGKPAIGT QKMELHVRWR SDTGKCVDAS PLVVIPTFDK
   781  SSTTVYIGSH SHRMKAVDFY SGKVKWEQIL GDRIESSACV SKCGNFIVVG CYNGLVYVLK
   841  SNSGEKYWMF TTEDAVKSSA TMDPTTGLIY IGSHDQHAYA LDIYRKKCVW KSKCGGTVFS
   901  SPCLNLIPHH LYFATLGGLL LAVNPATGNV IWKHSCGKPL FSSPQCCSQY ICIGCVDGNL
   961  LCFTHFGEQV WQFSTSGPIF SSPCTSPSEQ KIFFGSHDCF IYCCNMKGHL QWKFETTSRV
  1021  YATPFAFHNY NGSNEMLLAA ASTDGKVWIL ESQSGQLQSV YELPGEVFSS PVVLESMLII
  1081  GCRDNYVYCL DLLGGNQK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against AASDH 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: Unknown
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 11 nTPM

Expression across tissuesHPA

Tissue

retina: 11 nTPM
breast: 7.8 nTPM
epididymis: 7.7 nTPM
parathyroid gland: 6.7 nTPM
skin: 6.7 nTPM
thyroid gland: 6.7 nTPM

Single-cell type

astrocytes: 94 nCPM
adrenal cortex cells: 90 nCPM
retinal horizontal cells: 76 nCPM
lactotrophs: 74 nCPM
myonuclei: 72 nCPM
sertoli cells: 70 nCPM

Immune cell

naive CD4 T-cell: 4 nTPM
MAIT T-cell: 3.8 nTPM
naive B-cell: 3 nTPM
naive CD8 T-cell: 3 nTPM
T-reg: 2.9 nTPM
gdT-cell: 2.8 nTPM

Brain region

cerebellum: 15 nTPM
white matter: 13 nTPM
medulla oblongata: 13 nTPM
midbrain: 12 nTPM
basal ganglia: 12 nTPM
hypothalamus: 12 nTPM

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): 0.83
gnomAD pLI: 0
gnomAD missense Z: 0.26
DepMap mean gene effect: -0.12
DepMap dependency class: none

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

fatty acid metabolic process
amino acid activation for nonribosomal peptide biosynthetic process
beta-alanine metabolic process

Molecular functions

Protein domainsUniProt · Pfam · InterPro

AMP-dependent synthetase/ligase domain
Phosphopantetheine binding ACP domain
Quinoprotein alcohol dehydrogenase-like superfamily
WD40/YVTN repeat-like-containing domain superfamily
Pyrrolo-quinoline quinone beta-propeller repeat
AMP-binding, conserved site
ACP-like superfamily
ANL, N-terminal domain
AMP-binding enzyme domain superfamily
AMP-binding enzyme
Phosphopantetheine attachment site
Pyrrolo-quinoline quinone repeat domain
Beta-alanine-activating enzyme, AMP-binding domain
Beta-alanine Activation and Resistance
Beta-alanine-activating enzyme, beta-propeller

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

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

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