Seroatlas · Human Serome Atlas

ZSWIM6

Zinc finger SWIM domain-containing protein 6

Also known as: KIAA1577, ZSWM6_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9HCJ5
Gene: ZSWIM6
Ensembl: ENSG00000130449
Chromosome: 5
Canonical length: 1215 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

The protein encoded by this gene contains a zinc finger SWI2/SNF2 and MuDR (SWIM) domain. Proteins with SWIM domains have been found in a diverse number of species and are predicted to interact with DNA or proteins. Mutations in this gene result in acromelic frontonasal dysostosis. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

1215 residues, UniProt reviewed canonical sequence.

>Q9HCJ5|ZSWIM6
     1  MAERGQQPPP AKRLCCRPGG GGGGGGSSGG GGGAGGGYSS ACRPGPRAGG AAAAAACGGG
    61  AALGLLPPGK TQSPESLLDI AARRVAEKWP FQRVEERFER IPEPVQRRIV YWSFPRSERE
   121  ICMYSSFNTG GGAAGGPGDD SGGGGGAGGG GGGGSSSSPA ATSAAATSAA AAAAAAAAAA
   181  AAAAGAGAPS VGAAGAADGG DETRLPFRRG IALLESGCVD NVLQVGFHLS GTVTEPAIQS
   241  EPETVCNVAI SFDRCKITSV TCSCGNKDIF YCAHVVALSL YRIRKPDQVK LHLPISETLF
   301  QMNRDQLQKF VQYLITVHHT EVLPTAQKLA DEILSQNSEI NQVHGAPDPT AGASIDDENC
   361  WHLDEEQVQE QVKLFLSQGG YHGSGKQLNL LFAKVREMLK MRDSNGARML TLITEQFMAD
   421  PRLSLWRQQG TAMTDKYRQL WDELGALWMC IVLNPHCKLE QKASWLKQLK KWNSVDVCPW
   481  EDGNHGSELP NLTNALPQGA NANQDSSNRP HRTVFTRAIE ACDLHWQDSH LQHIISSDLY
   541  TNYCYHDDTE NSLFDSRGWP LWHEHVPTAC ARVDALRSHG YPREALRLAI AIVNTLRRQQ
   601  QKQLEMFRTQ KKELPHKNIT SITNLEGWVG HPLDPVGTLF SSLMEACRID DENLSGFSDF
   661  TENMGQCKSL EYQHLPAHKF LEEGESYLTL AVEVALIGLG QQRIMPDGLY TQEKVCRNEE
   721  QLISKLQEIE LDDTLVKIFR KQAVFLLEAG PYSGLGEIIH RESVPMHTFA KYLFTSLLPH
   781  DAELAYKIAL RAMRLLVLES TAPSGDLTRP HHIASVVPNR YPRWFTLSHI ESQQCELAST
   841  MLTAAKGDVR RLETVLESIQ KNIHSSSHIF KLAQDAFKIA TLMDSLPDIT LLKVSLELGL
   901  QVMRMTLSTL NWRRREMVRW LVTCATEVGV YALDSIMQTW FTLFTPTEAT SIVATTVMSN
   961  STIVRLHLDC HQQEKLASSA RTLALQCAMK DPQNCALSAL TLCEKDHIAF ETAYQIVLDA
  1021  ATTGMSYTQL FTIARYMEHR GYPMRAYKLA TLAMTHLNLS YNQDTHPAIN DVLWACALSH
  1081  SLGKNELAAI IPLVVKSVKC ATVLSDILRR CTLTTPGMVG LHGRRNSGKL MSLDKAPLRQ
  1141  LLDATIGAYI NTTHSRLTHI SPRHYSEFIE FLSKARETFL MAHDGHIQFT QFIDNLKQIY
  1201  KGKKKLMMLV RERFG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZSWIM6 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): 0.34
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 13 nTPM
lung: 13 nTPM
basal ganglia: 12 nTPM
midbrain: 10 nTPM
rectum: 10 nTPM
stomach: 9.5 nTPM

Single-cell type

neutrophils: 3,331 nCPM
respiratory basal cells: 2,092 nCPM
salivary basal cells: 1,986 nCPM
podocytes: 1,947 nCPM
urothelial cells: 1,640 nCPM
pituicytes/fscs: 1,617 nCPM

Immune cell

neutrophil: 1.6 nTPM
non-classical monocyte: 1.3 nTPM
plasmacytoid DC: 1.3 nTPM
classical monocyte: 1.1 nTPM
basophil: 0.9 nTPM
intermediate monocyte: 0.9 nTPM

Brain region

white matter: 60 nTPM
basal ganglia: 41 nTPM
medulla oblongata: 40 nTPM
pons: 36 nTPM
thalamus: 36 nTPM
midbrain: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZSWIM6.

Disease | AllUniProt

Conditions ZSWIM6 is implicated in, by any mechanism.

Acromelic frontonasal dysostosis (AFND) MIM:603671
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) MIM:617865

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 1,048 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Inborn genetic diseases
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features
Acromelic frontonasal dysostosis
ZSWIM6 related intellectual disability
ZSWIM6-related disorder

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): 0.07
gnomAD pLI: 1
gnomAD missense Z: 4.18
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

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZSWIM6 as an antibody target. Whether an autoantibody or antibody against ZSWIM6 could matter depends on whether native ZSWIM6 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZSWIM6 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 ZSWIM6 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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