GenTIGS

Intraflagellar transport 140 (IFT140) Associated conditions: 1. Retinitis pigmentosa

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_014714.4	NP_055529.2	NC_000016.10	(1510426..1612071, complement)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 145 reference articles

Variant Information Intraflagellar transport 140 (IFT140) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Intraflagellar transport 140 (IFT140)

ClinVar variants:Revealing mutagenic patterns

GO Term of Intraflagellar transport 140 (IFT140)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	photoreceptor outer segment	Component	-
2	Homo sapiens	IPI	enables	protein binding	Function	27173435 27932497 28514442 29220510 33961781 40205054
3	Homo sapiens	IEA	located_in	cytoplasm	Component	-
4	Homo sapiens	IDA	located_in	centrosome	Component	23418020
5	Homo sapiens	IEA	located_in	centrosome	Component	-
6	Homo sapiens	IEA	located_in	centriole	Component	-
7	Homo sapiens	IDA	located_in	cilium	Component	27932497
8	Homo sapiens	IEA	located_in	cilium	Component	-
9	Homo sapiens	NAS	located_in	cilium	Component	27806291
10	Homo sapiens	TAS	located_in	cilium	Component	-
11	Homo sapiens	IBA	is_active_in	axoneme	Component	-
12	Homo sapiens	IEA	located_in	axoneme	Component	-
13	Homo sapiens	ISS	located_in	axoneme	Component	-
14	Homo sapiens	IEA	involved_in	cell projection organization	Process	-
15	Homo sapiens	IBA	part_of	intraciliary transport particle A	Component	-
16	Homo sapiens	IDA	part_of	intraciliary transport particle A	Component	20889716 27932497 36775821
17	Homo sapiens	IEA	part_of	intraciliary transport particle A	Component	-
18	Homo sapiens	IEA	located_in	photoreceptor connecting cilium	Component	-
19	Homo sapiens	IDA	involved_in	intraciliary anterograde transport	Process	20889716 40472089
20	Homo sapiens	IBA	involved_in	intraciliary retrograde transport	Process	-
21	Homo sapiens	IEA	involved_in	intraciliary retrograde transport	Process	-
22	Homo sapiens	IMP	involved_in	intraciliary retrograde transport	Process	22503633
23	Homo sapiens	NAS	involved_in	intraciliary retrograde transport	Process	27806291
24	Homo sapiens	IBA	is_active_in	ciliary basal body	Component	-
25	Homo sapiens	IDA	located_in	ciliary basal body	Component	22503633
26	Homo sapiens	IEA	located_in	ciliary basal body	Component	-
27	Homo sapiens	IEA	involved_in	cilium assembly	Process	-
28	Homo sapiens	IMP	involved_in	cilium assembly	Process	28724397
29	Homo sapiens	NAS	involved_in	cilium assembly	Process	27806291
30	Homo sapiens	IMP	acts_upstream_of_or_within	protein localization to cilium	Process	20889716
31	Homo sapiens	IMP	involved_in	protein localization to cilium	Process	22503633
32	Homo sapiens	IDA	involved_in	protein localization to non-motile cilium	Process	20889716 36775821 40472089
33	Homo sapiens	TAS	located_in	ciliary tip	Component	-
34	Homo sapiens	IEA	located_in	non-motile cilium	Component	-
35	Homo sapiens	IDA	contributes_to	protein carrier chaperone	Function	20889716 36775821
36	Homo sapiens	IMP	involved_in	regulation of cilium assembly	Process	22503633