Seroatlas · Human Serome Atlas

HOXD1

Homeobox protein Hox-D1

Also known as: HOX4, HOX4G, HXD1_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9GZZ0
Gene: HOXD1
Ensembl: ENSG00000128645
Chromosome: 2
Canonical length: 328 aa
Protein class: Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm

OverviewNCBI Gene

This gene is a member of the Antp homeobox family and encodes a protein with a homeobox DNA-binding domain. This nuclear protein functions as a sequence-specific transcription factor that is involved in differentiation and limb development. Mutations in this gene have been associated with severe developmental defects on the anterior-posterior (a-p) limb axis. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

328 residues, UniProt reviewed canonical sequence.

>Q9GZZ0|HOXD1
     1  MSSYLEYVSC SSSGGVGGDV LSLAPKFCRS DARPVALQPA FPLGNGDGAF VSCLPLAAAR
    61  PSPSPPAAPA RPSVPPPAAP QYAQCTLEGA YEPGAAPAAA AGGADYGFLG SGPAYDFPGV
   121  LGRAADDGGS HVHYATSAVF SGGGSFLLSG QVDYAAFGEP GPFPACLKAS ADGHPGAFQT
   181  ASPAPGTYPK SVSPASGLPA AFSTFEWMKV KRNASKKGKL AEYGAASPSS AIRTNFSTKQ
   241  LTELEKEFHF NKYLTRARRI EIANCLHLND TQVKIWFQNR RMKQKKRERE GLLATAIPVA
   301  PLQLPLSGTT PTKFIKNPGS PSQSQEPS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HOXD1 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): 0.67
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

spinal cord: 17 nTPM
epididymis: 7.1 nTPM
kidney: 6.4 nTPM
midbrain: 6 nTPM
fallopian tube: 4.5 nTPM
small intestine: 3.3 nTPM

Single-cell type

epididymal principal cells: 85 nCPM
epididymal efferent duct absorptive cells: 59 nCPM
epididymal efferent duct ciliated cells: 45 nCPM
enteric stem cells: 32 nCPM
fallopian tube ciliated cells: 29 nCPM
colonocytes: 28 nCPM

Immune cell

basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM
MAIT T-cell: 0 nTPM

Brain region

medulla oblongata: 43 nTPM
white matter: 20 nTPM
pons: 16 nTPM
spinal cord: 13 nTPM
cerebellum: 12 nTPM
midbrain: 11 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): 1.21
gnomAD pLI: 0
gnomAD missense Z: -0.04
DepMap mean gene effect: 0.08
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads HOXD1 as an antibody target. Whether an autoantibody or antibody against HOXD1 could matter depends on whether native HOXD1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

HOXD1 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 HOXD1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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