REELD1

Summary

REELD1 (reeler domain containing 1, HGNC:53638) is a protein-coding gene on chromosome 4q31.22, encoding Reelin domain-containing protein 1 (A0A1B0GV85).

Predicted to be active in membrane.

Source: NCBI Gene 345051 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001354631

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53638
Approved symbol	REELD1
Name	reeler domain containing 1
Location	4q31.22
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000250673
Ensembl biotype	protein_coding
Entrez	345051

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000504313, ENST00000623665, ENST00000636502, ENST00000636686

RefSeq mRNA: 2 — MANE Select: NM_001354631 NM_001354631, NM_001371071

CCDS: CCDS87268

Canonical transcript exons

ENST00000623665 — 8 exons

Exon	Start	End
ENSE00003756055	146229905	146232267
ENSE00003793745	146228210	146228522
ENSE00003795871	146229025	146229088
ENSE00003799807	146224445	146224608
ENSE00003801184	146222357	146222579
ENSE00003926728	146215076	146215198
ENSE00003930576	146216942	146217160
ENSE00003930680	146214538	146214694

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 71.92.

Top tissues by expression

133 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.92	gold quality
granulocyte	CL:0000094	71.26	gold quality
apex of heart	UBERON:0002098	67.95	gold quality
mucosa of stomach	UBERON:0001199	66.81	gold quality
sural nerve	UBERON:0015488	65.38	gold quality
subcutaneous adipose tissue	UBERON:0002190	65.33	gold quality
spleen	UBERON:0002106	64.75	gold quality
right uterine tube	UBERON:0001302	64.40	gold quality
left uterine tube	UBERON:0001303	63.55	gold quality
blood	UBERON:0000178	63.01	gold quality
metanephros cortex	UBERON:0010533	62.92	gold quality
skin of leg	UBERON:0001511	62.72	gold quality
tibial nerve	UBERON:0001323	62.63	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	62.43	gold quality
right lobe of liver	UBERON:0001114	61.96	gold quality
gastrocnemius	UBERON:0001388	61.87	gold quality
right coronary artery	UBERON:0001625	61.84	gold quality
muscle of leg	UBERON:0001383	61.28	gold quality
adipose tissue	UBERON:0001013	60.86	gold quality
zone of skin	UBERON:0000014	60.74	gold quality
right lung	UBERON:0002167	60.74	gold quality
thoracic mammary gland	UBERON:0005200	59.84	gold quality
vermiform appendix	UBERON:0001154	59.06	gold quality
lymph node	UBERON:0000029	58.65	gold quality
endocervix	UBERON:0000458	58.54	gold quality
skin of abdomen	UBERON:0001416	58.12	gold quality
popliteal artery	UBERON:0002250	58.00	gold quality
tibial artery	UBERON:0007610	57.99	gold quality
nucleus accumbens	UBERON:0001882	57.91	gold quality
fallopian tube	UBERON:0003889	57.77	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.89

Regulation

Is transcription factor: no

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	CG8399	FBGN0034067
drosophila_melanogaster	CG14515	FBGN0039648
drosophila_melanogaster	l(2)34Fc	FBGN0261534
caenorhabditis_elegans		WBGENE00007339
caenorhabditis_elegans		WBGENE00013292
caenorhabditis_elegans		WBGENE00019746
caenorhabditis_elegans		WBGENE00077490

Paralogs (2): FRRS1 (ENSG00000156869), FRRS1L (ENSG00000260230)

Protein

Protein identifiers

Reelin domain-containing protein 1 — A0A1B0GV85 (reviewed: A0A1B0GV85)

All UniProt accessions (2): A0A1B0GV85, A0A1B0GTE3

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001341560, NP_001358000 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002861	Reeler_dom	Domain
IPR042307	Reeler_sf	Homologous_superfamily
IPR051237

Pfam: PF02014

UniProt features (11 total): region of interest 3, compositionally biased region 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GV85-F1	58.74	0.27

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr4q31

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

643 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
REELD1	SLC38A11	Q08AI6	595
REELD1	SYNPR	Q8TBG9	448
REELD1	LURAP1L	Q8IV03	359
REELD1	ATIC	P31939	330
REELD1	GSC	P56915	326
REELD1	MRPL23	Q16540	301
REELD1	ASMTL	O95671	293
REELD1	TYRP1	P17643	266
REELD1	SH2D5	Q6ZV89	250
REELD1	CTXN1	P60606	248
REELD1	ATP5MK	Q96IX5	245
REELD1	TYR	P14679	243
REELD1	BCO2	Q9BYV7	239
REELD1	MRPL47	Q9HD33	229
REELD1	ARX	Q96QS3	228

IntAct

88 interactions, top by confidence:

A	B	Type	Score
REELD1	ARHGEF12	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	GRID2IP	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	PARD3B	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	GOPC	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	ARHGEF11	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	TJP2	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	SHANK1	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	RHPN1	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	HTRA4	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	REELD1	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	MPDZ	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	DLG5	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	LIN7B	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	TAX1BP3	psi-mi:“MI:0407”(direct interaction)	0.440
DLG3	REELD1	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	GRIP1	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	FRMPD3	psi-mi:“MI:0407”(direct interaction)	0.440
REELD1	TJP1	psi-mi:“MI:0407”(direct interaction)	0.440

ESM2 similar proteins: A0A1B0GV85, A2ALI5, A2APT9, B0BN44, B1ARY8, B6ZI38, O14836, O35188, O55145, O60279, O60667, P07141, P09603, P0C8S2, P28906, P40225, P40226, P42705, P78423, Q06154, Q08DV9, Q13261, Q1ERP8, Q28270, Q2TB54, Q3UY90, Q4V9H3, Q4W8E7, Q5F267, Q5R770, Q60819, Q64314, Q6PAL1, Q6PCP7, Q6UXB8, Q80XI1, Q8BLK9, Q8CAE9, Q8CBC4, Q8JZQ0

Diamond homologs: A0A1B0GV85, A2VE04, P0C963, Q0Q028, Q0Q029, Q5MGQ0, Q6INU7, Q6ZNA5, Q765V4, Q86RS3, Q8K385, Q9V3Y3, A4QP81, B1AXV0, D3ZE85, P35446, P35447, Q8VCC9, Q9GLX9, Q9HCB6, Q9P0K9, Q9W770, O96382, Q008X1, Q8MSU3, Q25313

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 65 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Assembly and cell surface presentation of NMDA receptors	8	45.1×	6e-10
Neurexins and neuroligins	10	43.8×	3e-12
Protein-protein interactions at synapses	6	35.4×	1e-06
RHOB GTPase cycle	5	17.1×	2e-04
RHOC GTPase cycle	5	16.3×	2e-04
RHOA GTPase cycle	6	9.9×	4e-04
RAC1 GTPase cycle	5	6.8×	6e-03
RHO GTPase cycle	5	6.7×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	9	83.0×	3e-13
protein localization to synapse	6	73.0×	3e-08
receptor clustering	6	59.4×	8e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	6	47.2×	2e-07
cell-cell adhesion	9	14.5×	7e-07
regulation of small GTPase mediated signal transduction	5	11.4×	2e-03
protein-containing complex assembly	5	9.0×	4e-03
chemical synaptic transmission	7	8.6×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000035014 (4:146219156 TCAAA>T,TCAAACAAA), RS1000046101 (4:146224227 T>C), RS1000398808 (4:146224520 C>T), RS1000500496 (4:146217096 G>A,C), RS1000505123 (4:146220101 C>T), RS10006650 (4:146220149 T>A,C), RS1000735807 (4:146213838 T>C), RS1000823582 (4:146229838 C>A,T), RS1000988287 (4:146231628 G>A,T), RS1001110917 (4:146223129 A>G,T), RS1001161057 (4:146225878 T>G), RS1001175255 (4:146220165 G>A), RS1001456542 (4:146225598 C>A), RS10014590 (4:146220219 G>A), RS1001575228 (4:146213460 C>G,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.