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FLASH GENE

Symbol

TULP1

contributors: mct - updated : 21-12-2020

HGNC name	tubby like protein 1
HGNC id	12423

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LCA15 Leber congenital amaurosis, type 15 RP14 retinitis pigmentosa 14
Location	6p21.31      Physical location : 35.465.652 - 35.480.647
Synonym symbol(s)	THER, TUBL1, RP14, TUL1, LCA15

DNA

TYPE	functioning gene
STRUCTURE	15.02 kb     14 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - D6S439 - D6S2187 - D6S2003 - TULP1 - D6S2128 - D6S1875 - D6S291 - cen
Authors	North (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_003322 14 - 2107 NP_003313 61 542 - 1997 9096357 NM_001289395 14 - 1961 NP_001276324 - 489 - 1997 9096357

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous nerve cranial nerve       Respiratory respiratory tract larynx       Visual eye retina     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial sensory visual

cells

System Cell Pubmed Species Stage Rna symbol Visual cone photoreceptor Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES		Hydrophilic
STRUCTURE

motifs/domains	five minimal phagocytosis determinants of K/R(X)1–2KKK in the N-terminus, with five minimal phagocytic determinants (MPDs)
	hydrophilic protein comprising two nuclear localization signals (NLS),
	a stretch of 15 predominantly hydrophobic flanked by charged residues and reminiscent of a membrane anchor domain,
	conserved C terminal domain of 200 AAs, PPBD domain important for TULP1 binding to phagocytosis preys

HOMOLOGY

interspecies

homolog to murine Tulp1

intraspecies

homolog to TUB

Homologene

FAMILY

tubby-like gene family

CATEGORY

antigen , signaling neurotransmitter

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,microtubule
	intracellular,nucleus
text	inner segment of the photoreceptors
	associates with cellular membranes and the actin cytoskeleton
	localizes at or near the plasma membrane
	in photoreceptor cells, actin and TULP1 colocalize at the inner segment, connecting cilium, and outer limiting membrane

basic FUNCTION	may be a component of the cellular machinery that targets nascent rhodopsin to the outer segments
	involved in normal photoreceptor function and in retinal development
	required to maintain viability of rod and cone photoreceptors
	autoantigen in cancer-associated retinopathy
	involved in the vesicular trafficking of photoreceptor proteins, both at the nerve terminal during synaptic transmission and at the inner segment during protein translocation to the outer segment
	may function in the transport of rhodopsin from its site of synthesis in the inner segment through the connecting cilium to its final destination in the outer segment of the photoreceptor cell
	TULP1 may be involved in actin cytoskeletal functions such as protein trafficking that takes place at or near the plasma membrane from the inner segment through the connecting cilium into the outer segment of photoreceptor cells
	Tubby and TULP1, but not other family members, enhanced the uptake of membrane vesicles by retinal pigment epithelium (RPE) cells in synergy
	not only critical for photoreceptor function and survival, but is essential for the proper development of the photoreceptor synapse
	tubby and TULP1 are new type of MERTK ligands to facilitate phagocytosis
	tubby and TULP1 have potentially a critical function as phagocytosis ligands in the maintenance of retinal homeostasis
	potential role for TULP1 in vesicular docking and fusion at the plasma membrane near the connecting cilium
	implicated in the transport of selective integral membrane outer segment proteins and their associated proteins, specifically, the opsin and guanylate cyclase carrier pathways
	is a photoreceptor-specific protein involved in the transport of specific proteins from the inner segment (IS) to the outer segment (OS) in photoreceptor cells
	cytoplasmic, membrane-associated protein shown to be involved in transportation of newly synthesized proteins destined for the outer segment compartment of photoreceptor cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

member of the molecular machinery required for the polarized vesicular translocation of proteins, within photoreceptor outer segments and terminals

INTERACTION

DNA

RNA

small molecule

protein	interacts with Dynamin-1 (DNM1)(colocalize to the outer plexiform layer and may play an important role in establishing or maintaining photoreceptor synaptic terminal)
	interaction between TULP1 and actin
	tubby and TULP1 are new MERTK ligands and facilitate phagocytosis in a MERTK-dependent manner (TULP1 interacts with all three RTKs in the TAM subfamily)
	a retina-specific splice variant of DNM1 interacts with the photoreceptor-specific protein TULP1
	association between TULP1 and the microtubule-associated protein, MAP1B
	interaction between TULP1 and the synaptic ribbon protein CTBP2, which is important to maintain synaptic ribbon integrity
	interaction between PRCD and tubby-like protein 1 (TULP1)
	TULP1 and TUB, which are involved in the vesicular trafficking of several photoreceptor proteins from the inner segment to the outer segment, are also required for PRCD exclusive localization to photoreceptor outer segment discs

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

RP14 , LCA15

related resource

TULP1Mutations Retinal Information Network

Susceptibility

Variant & Polymorphism

Candidate gene	excellent candidates for these ocular diseases as a mutation within the tub gene is known to lead to early progressive retinal degeneration
Marker
Therapy target

ANIMAL & CELL MODELS

. the defect intulp1-/- mice is consistent with a loss of polarized transport of nascent opsin to the outer segments