Gene and Protein Information
Species	TM	AA	Chromosomal Location	Gene Symbol	Gene Name	Reference
Human	-	641	6p21.33	HSPA1L	heat shock protein family A (Hsp70) member 1 like
Mouse	-	641	17 18.51 cM	Hspa1l	heat shock protein 1-like
Rat	-	641	20p12	Hspa1l	heat shock protein family A (Hsp70) member 1 like

Previous and Unofficial Names

heat shock 70kDa protein 1-like | heat shock 70kD protein-like 1 | HSP70-HOM | hum70t

Database Links
Alphafold	P34931 (Hs), P16627 (Mm), P55063 (Rn)
Ensembl Gene	ENSG00000204390 (Hs), ENSMUSG00000007033 (Mm), ENSRNOG00000047966 (Rn)
Entrez Gene	3305 (Hs), 15482 (Mm), 24963 (Rn)
Human Protein Atlas	ENSG00000204390 (Hs)
KEGG Gene	hsa:3305 (Hs), mmu:15482 (Mm), rno:24963 (Rn)
OMIM	140559 (Hs)
Pharos	P34931 (Hs)
RefSeq Nucleotide	NM_005527 (Hs), NM_013558 (Mm), NM_212546 (Rn)
RefSeq Protein	NP_005518 (Hs), NP_038586 (Mm), NP_997711 (Rn)
UniProtKB	P34931 (Hs), P16627 (Mm), P55063 (Rn)
Wikipedia	HSPA1L (Hs)

Immunopharmacology Comments

Mutations in HSPA1L have been identified in patients with inflammatory bowel disease (IBD) [3], suggesting a role for this protein in the pathogenesis of IBD. An elevated level of HSPA1L mRNA from human whole blood correlates with graft-versus-host disease in patients with acute and chronic stage disease [1].

Immuno Disease Associations

Disease Name:  Crohn's disease Disease Synonyms:  no synonynms Comment:  Genetic mutations that cause amino acid changes in the HSPA1L protein have been identified in patients with CD. Disease X-refs:  Disease Ontology: DOID:8778 OMIM: 266600 Orphanet: ORPHA206 References:  3

Disease Name:  Ulcerative colitis Disease Synonyms:  no synonynms Comment:  Genetic mutations that cause amino acid changes in the HSPA1L protein have been identified in patients with UC. Disease X-refs:  Disease Ontology: DOID:8577 OMIM: 266600 Orphanet: ORPHA771 References:  3

Biologically Significant Variants
Type:  Naturally occurring mutation Species:  Human Description:  A mutation identified in a patient with Crohn's disease. Amino acid change:  Glu558Asp Nucleotide change:  1674A > T References:  3
Type:  Naturally occurring mutation Species:  Human Description:  A mutation identified in a patient with Crohn's disease. Amino acid change:  Ala268Thr Nucleotide change:  802G > A References:  3
Type:  Naturally occurring mutation Species:  Human Description:  A moderately conservative mutation identified in a patient with ulcerative colitis. Amino acid change:  Ala268Thr Nucleotide change:  802G > A SNP accession:  rs34620296 References:  3
Type:  Naturally occurring mutations Species:  Human Description:  A mutation identified in a patient with ulcerative colitis. Exhibits a dominant negative effect in vitro. Amino acid change:  Ser277Leu Nucleotide change:  830C > T References:  3
Type:  Naturally occurring mutation Species:  Human Description:  An in-frame deletion identified in a patient with unclassified inflammatory bowel disease. Exhibits a dominant negative effect in vitro. Amino acid change:  Leu172del Nucleotide change:  515_517del References:  3
Type:  Naturally occurring mutation Species:  Human Description:  A moderately conservative mutation identified in a patient with Crohn's disease. Amino acid change:  Thr267Ile Nucleotide change:  800C > T SNP accession:  rs139868987 References:  3
Type:  Naturally occurring mutation Species:  Human Description:  A moderately radical non-synonymous variant of HSPA1L identified in a patient with IBD. Amino acid change:  Glu558Ala Nucleotide change:  1673A > C SNP accession:  rs2227956 References:  3
Type:  Naturally occurring mutation Species:  Human Description:  A moderately conservative mutation identified in a patient with ulcerative colitis. Exhibits a dominant negative effect in vitro. Amino acid change:  Gly77Ser Nucleotide change:  c.229G > A SNP accession:  rs368138379 References:  3

General Comments

HSPA1L is a chaperone protein that is involved in ensuring the correct folding of nascent proteins, re-folding of misfolded proteins, and targeting proteins for degradation. It has a substrate (peptide) binding site that is controlled by its nucleotide binding status. When ATP is bound, substrate affinity is low. ATP hydrolysis to ADP causes a conformational change that increases affinity for substrate. Switching between these two states facilitates substrate binding and release [2].